The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn, together, + dromos, a running]
- Aagenaes s. an idiopathic form of familial intrahepatic cholestasis associated with lymphedema of the lower extremities.
- Aarskog-Scott s. SYN: faciodigitogenital dysplasia.
- abdominal muscle deficiency s. [MIM*100100, MIM*264140] congenital absence (partial or complete) of abdominal muscles, in which the outline of the intestines is visible through the protruding abdominal wall; in males, genitourinary anomalies (urinary tract dilation and cryptorchidism) are also found; genetics unclear. SEE ALSO: prune belly s.. SYN: prune belly.
- abstinence s. a constellation of physiologic changes undergone by persons or animals who have become physically dependent on a drug or chemical due to prolonged use at elevated doses, but who are abruptly deprived of that substance. The abstinence s. varies with the drug to which dependence has developed. Generally the effects observed are in an opposite direction from those produced by the drug; e.g., the withdrawal s. from central nervous system depressants such as barbiturates and benzodiazepines consists of insomnia, restlessness, tremulousness, hallucinations, and, in the extreme, tonic-clonic convulsions which may prove fatal. The onset time and severity of the abstinence s. depend upon how rapidly the drug disappears from the body.
- Achard s. [MIM*100700] arachnodactyly with small receding mandible, broad skull, and joint laxity limited to the hands and feet; genetics unclear.
- Achard-Thiers s. one form of a virilizing disorder of adrenocortical origin in women, characterized by masculinization and menstrual disorders in association with manifestations of diabetes mellitus, such as glucosuria.
- Achenbach s. hematoma of the finger pad with accompanying edema; of unknown cause in the absence of disturbances in blood coagulation mechanisms.
- acrofacial s. SYN: acrofacial dysostosis.
- acroparesthesia s. abnormal sensation such as numbness and tingling in the hands, usually in middle-aged women; now known to be a classic symptom of carpal tunnel s..
- acute radiation s. a s. caused by exposure of the body to large amounts of radiation, ( e.g., from certain forms of therapy, accidents, and nuclear explosions; it is divided into three major forms which are, in ascending order of severity, the hematogic, gastrointestinal, and central nervous system-cardiovascular forms; its clinical manifestations are divided into prodromal, latent, overt, and recovery stages.
- Adams-Stokes s. a s. characterized by slow or absent pulse, vertigo, syncope, convulsions, and sometimes Cheyne-Stokes respiration; usually as a result of advanced AV block or sick sinus s.. SYN: Adams-Stokes disease, Morgagni disease, Morgagni-Adams-Stokes s., Spens s., Stokes-Adams disease, Stokes-Adams s..
- adaptation s. of Selye general nonspecific adaptation of the organism in response to specific stimuli which trigger a cycle of extensive physiological changes in the endocrine and other organ systems due to prolonged and intense stress. See general adaptation s..
- adherence s. restriction action of an ocular muscle owing to adhesions between the muscle and its fascial sheath.
- Adie s. [MIM*100300] an idiopathic postganglionic denervation of the parasympathetically innervated intraocular muscles, usually complicated by signs of aberrant regeneration of these nerves: a weak light reaction with segmental palsy of iris sphincter, a strong, slow near response. Deep tendon reflexes are often asymmetrically reduced. SEE ALSO: tonic pupil. SYN: Adie pupil, Holmes-Adie pupil, Holmes-Adie s., pupillotonic pseudotabes.
- adiposogenital s. SYN: adiposogenital dystrophy.
- adrenal cortical s. an inexact (and obsolete) term that has been applied to Cushing s., Addison disease, or the adrenogenital s..
- adrenogenital s. generic designation for a group of disorders caused by adrenocortical hyperplasia or malignant tumors and characterized by masculinization of women, feminization of men, or precocious sexual development of children; representative of excessive or abnormal secretory patterns of adrenocortical steroids, especially those with androgenic or estrogenic effects.
- adult respiratory distress s. (ARDS) acute lung injury from a variety of causes, characterized by interstitial and/or alveolar edema and hemorrhage as well as perivascular pulmonary edema associated with hyaline membrane formation, proliferation of collagen fibers, and swollen epithelium with increased pinocytosis. SYN: acute respiratory distress s., diffuse alveolar damage, wet lung (2), white lung.
- afferent loop s. chronic obstruction of the duodenum and jejunum proximal to the gastrojejunostomy performed in a Billroth II-type gastrectomy; the distended afferent loop of jejenum and duodenum causes symptoms of pain and fullness associated with food injestion; weight loss is common. SYN: gastrojejunal loop obstruction s..
- aglossia-adactylia s. [MIM*103300] congenital absence or hypoplasia of the tongue, associated with absence of the digits.
- Aicardi s. [MIM*304050] an X-linked dominant disorder with lethality in hemizygous males; characterized by agenesis of corpus collosum, chorioretinal abnormality with “holes,” cleft lip with or without cleft palate, seizures, and characteristic EEG changes.
- Alagille s. [MIM 118450] an autosomal dominant s. that becomes apparent in childhood and is associated with jaundice due to a paucity of intrahepatic bile ducts; characteristics include a narrow face and pointed chin, broad forehead, long, straight nose, deep-set eyes, posterior embryotoxon in the eye, cardiovascular abnormalities, vertebral defects, and nephropathy.
- alcohol amnestic s. an amnestic s. resulting from alcoholism; alcoholic “blackouts.” Cf.:Korsakoff s..
- Alice in Wonderland s. the illusion of dreams, feelings of levitation, and alteration in the sense of the passage of time, sometimes associated with migraine, epilepsy, and various diseases of the parietal lobe of the brain.
- Allen-Masters s. pelvic pain resulting from an old laceration of the broad ligament received during delivery.
- Allgrove s. SYN: triple A s..
- Alport s. a genetically heterogeneous disorder characterized by nephritis associated with microscopic hematuria and slow progression of renal failure, sensorineural hearing loss, and ocular abnormalities such as lenticonus and maculopathy; autosomal dominant [MIM*104200, MIM*153640, and MIM*153650], autosomal recessive [MIM*203780], and X-linked recessive [MIM*301050 and MIM*303630] forms exist. The X-linked form is caused by mutation in the collagen type IV alpha-5 gene (COL4A5) on chromosome Xq; the autosomal recessive form is due to mutation in the collagen type IV alpha-3 gene (COL4A3) or alpha-4 gene (COL4A4) on 2q.
- Alström s. [MIM*203800] retinal degeneration with nystagmus and loss of central vision, associated with obesity in childhood; sensorineural hearing loss and diabetes mellitus usually occur after age 10; autosomal recessive inheritance.
- amenorrhea-galactorrhea s. unphysiologic lactation from endocrinological causes or from a pituitary tumor.
- amnestic s. 1. SYN: Korsakoff s.. 2. an organic brain s. with short-term (but not immediate) memory disturbance, regardless of the etiology.
- amnionic fluid s. pulmonary embolic phenomena thought to be due to infusion of amniotic fluid containing epithelial squames into maternal blood vessel s; shock ensues and sudden death may occur. See amnionic fluid embolism.
- Amsterdam s. SYN: de Lange s.. [Amsterdam, the Netherlands]
- androgen resistance syndromes a class of disorders associated with 5α-steroid reductase deficiency, testicular feminization, and related disorders. Cf.:steroid 5α-reductase, Reifenstein s., infertile male s., testicular feminization s.. SYN: androgen insensitivity s..
- Angelman s. microdeletion of 15q-13, of maternal origin, resulting in mental retardation, ataxia, paroxysms of laughter, seizures, characteristic facies, and minimal speech. See Prader-Willi s..
- Angelucci s. extreme excitability, vasomotor disturbances, and palpitation associated with vernal conjunctivitis.
- angioosteohypertrophy s. SYN: Klippel-Trenaunay-Weber s..
- ankyloglossia superior s. a congenital condition in which the tongue adheres to the hard palate; no evidence of genetic factors.
- anorectal s. soreness, burning, itching, or other irritation of the rectum together with redness about the anus, and sometimes accompanied by diarrhea, occurring as a toxic effect of the oral administration of certain broad spectrum antibiotics.
- anterior chamber cleavage s. [MIM*261540] a congenital disorder originating from faulty separation of embryonic structures; it results in bilateral central corneal opacities, with an anterior ring attachment of the iridic pupillary border and anterior polar cataracts; associated with short-limbed dwarfism; autosomal dominant inheritance. See iridocorneal endothelial s.. SYN: Peters anomaly.
- anterior tibial compartment s. ischemia of the muscles of the anterior tibial compartment of the leg, presumably caused by transient compression of arterial blood flow from muscle swelling within a closed fascial compartment, following strenuous physical activity.
- antibody deficiency s. any of a group of disorders associated with a defective antibody production due to defects in the B-type lymphocyte system or in T-type lymphocytes; chief manifestation is an increased susceptibility to infection by various microorganisms. See agammaglobulinemia, hypogammaglobulinemia, immunodeficiency. SYN: antibody deficiency disease.
- anxiety s. the constellation of autonomic nervous system signs and symptoms accompanying the apprehension of danger and dread. See anxiety.
- aortic arch s. atheromatous and/or thrombotic obliteration of the branches of the arch of the aorta leading to diminished or absent pulses in the neck and arms. SEE ALSO: Takayasu arteritis, reversed coarctation. SYN: Martorell s..
- Apert s. [MIM*101200] disorder characterized by craniosynostosis and syndactyly of all the fingers and usually the toes as well; the thumbs are free; mental retardation is a variable feature. Autosomal dominant mutation with most cases sporadic, caused by mutation in the fibroblast growth factor receptor 2 gene (FGFR2) on 10q. SEE ALSO: acrocephalosyndactyly. SYN: type I acrocephalosyndactyly.
- s. of approximate relevant answers SYN: Ganser s..
- Arnold-Chiari s. SYN: Arnold-Chiari malformation.
- arterial thoracic outlet s. a rare disorder due to compression of the subclavian artery (with resultant poststenotic dilation) by a fully formed cervical rib or an abnormal first thoracic rib; thrombi form in the dilated distal arterial segment, and distal limb ischemia may occur due to thromboembolic events.
- Ascher s. [MIM*109900] a condition in which a congenital double lip is associated with blepharochalasis and nontoxic thyroid gland enlargement.
- asplenia s. s. seen in patients who have no functional spleen, either because of surgical removal or disease ( e.g., sickle cell anemia); includes increased susceptibility to bacterial infection, especially pneumococcal infection.
- auriculotemporal nerve s. localized flushing and sweating of the ear and cheek in response to eating. SYN: Frey s., gustatory sweating s..
- autoerythrocyte sensitization s. a condition, usually occurring in women, in which the individual bruises easily (purpura simplex) and the ecchymoses tend to enlarge and involve adjacent tissues, resulting in pain in the affected parts; so called because similar lesions are produced by inoculation of the individual's blood or various components of red blood cells and it is thought to be a form of localized autosensitization, although no specific antibodies have been demonstrable. SYN: Gardner-Diamond s..
- Avellis s. unilateral paralysis of the larynx and velum palati, with contralateral loss of pain and temperature sensibility in the parts below. SYN: jugular foramen s..
- A-V strabismus s. strabismus in which the angle of deviation is more marked on looking upward or downward. SEE ALSO: A-pattern esotropia, V-pattern esotropia, A-pattern exotropia, V-pattern exotropia.
- Ayerza s. sclerosis of the pulmonary arteries in chronic cor pulmonale; associated with severe cyanosis, it is a condition resembling polycythemia vera but resulting from primary pulmonary arteriosclerosis or primary pulmonary hypertension and characterized by plexiform lesions of arterioles. SYN: Ayerza disease, cardiopathia nigra, plexogenic pulmonary arteriopathy.
- Babinski s. the combination of cardiac, arterial, and central nervous system manifestations of late syphilis.
- Balint s. an entity characterized by optic ataxia and simultanagnosia. This difficulty in applying the visual system to a visual task is usually due to damage to the superior temporal-occipital areas in both hemispheres.
- Bannwarth s. neurologic manifestations of Lyme disease, also called chronic lymphocytic meningitis and tick-borne meningopolyneuritis.
- Banti s. chronic congestive splenomegaly that occurs primarily in children as a sequel to hypertension in the portal or splenic veins, usually as a result of thrombosis in those veins; anemia, splenomegaly, and irregular episodes of gastrointestinal bleeding are usually observed, with ascites, jaundice, leukopenia, and thrombocytopenia developing in various conbinations. SYN: Banti disease, splenic anemia.
- Bardet-Biedl s. [MIM*209900] mental retardation, pigmentary retinopathy, polydactyly, obesity, and hypogenitalism; autosomal recessive inheritance. SEE ALSO: Laurence-Moon s..
- bare lymphocyte s. absence of HLA antigens on peripheral mononuclear cells, which may result in immunodeficiency.
- Barlow s. [MIM*157700] late apical systolic murmur or (so-called “mid-late”) systolic click, or both, due to billowing of the anterior and/or posterior (mural) mitral valvular leaflet into the left atrial cavity (also, floppy valve s.); electrocardiographically, ST-T changes in a posteroinferior distribution resembling those of myocardial ischemia often coexist for unknown reasons; rhythm disturbances may coexist with this s. without demonstrable pathogenetic relationship.
- Barrett s. chronic peptic ulceration of the lower esophagus, which is lined by columnar epithelium, resembling the mucosa of the gastric cardia, acquired as a result of long-standing chronic esophagitis; esophageal stricture with reflux, and adenocarcinoma, also have been reported. SYN: Barrett esophagus, Barrett metaplasia.
- Bart s. [MIM*132000] a form of epidermolysis bullosa with blistering of the extremities and intertriginous areas, congenital localized absence of skin, erosions of the mouth, and dystrophic nails; there is often spontaneous improvement with no residual scarring; autosomal dominant inheritance, caused by mutation in the collagen type VII gene (COL7A1) on chromosome 3p.
- Barth s. an X-linked s. characterized by poor growth, neutropenia, cardiomyopathy, and excess excretion of 3-methylglutaconic acid in the urine; some patients also show skeletal muscle weakness.
- Bartter s. [MIM*241200] a disorder due to a defect in active chloride reabsorption in the loop of Henle; characterized by primary juxtaglomerular cell hyperplasia with secondary hyperaldosteronism, hypokalemic alkalosis, hypercalciuria, elevated renin or angiotensin levels, normal or low blood pressure, and growth retardation; edema is absent. Autosomal recessive inheritance, caused by mutation in either the Na-K-2Cl cotransporter gene (SLC12A1) on chromosome 15q or the K(+) channel gene (KCNJ1) on 11q.
- basal cell nevus s. [MIM*109400] a s. of myriad basal cell nevi with development of basal cell carcinomas in adult life, odontogenic keratocysts, erythematous pitting of the palms and soles, calcification of the cerebral falx, and frequently skeletal anomalies, particularly ribs that are bifid or broadened anteriorly; autosomal dominant inheritance, caused by mutation in the PTCH gene, the human homolog of the “patched” gene of Drosophila on 9q. SYN: Gorlin s..
- Bassen-Kornzweig s. SYN: abetalipoproteinemia.
- battered child s. the clinical presentation of child abuse : various injuries to the skeleton, soft tissues, or organs of a child sustained as a result of repeated mistreatment or beating, usually by an individual responsible for the child's care.
- battered spouse s. physical, psychological, and emotional injuries in a person subjected to abuse by a spouse or domestic partner; usually associated with alcoholism in the abusing spouse.
- Bauer s. aortitis and aortic endocarditis as a little-recognized manifestation of rheumatoid arthritis.
- Bazex s. SYN: paraneoplastic acrokeratosis.
- Beckwith-Wiedemann s. [MIM*130650] an overgrowth s. characterized by exomphalos, macroglossia, and gigantism, often with neonatal hypoglycemia; there is an association with hemihypertrophy and Wilms tumor. Autosomal dominant inheritance, with most cases sporadic; influenced by genomic imprinting and uniparental disomy; caused by mutation in the P57 (KIP2) gene on chromosome 11p. SYN: EMG s..
- Behçet s. [MIM*109650] a s. characterized by simultaneously or successively occurring recurrent attacks of genital and oral ulcerations (aphthae) and uveitis or iridocyclitis with hypopyon, often with arthritis; a phase of a generalized disorder, occurring more often in men than in women, with variable manifestations, including dermatitis, erythema nodosum, thrombophlebitis, and cerebral involvement. SYN: Behçet disease, cutaneomucouveal s., iridocyclitis septica, oculobuccogenital s., recurrent hypopyon, triple symptom complex, uveoencephalitic s..
- Behr s. [MIM*210000] characterized by bilateral optic atrophy with temporal field defects, nystagmus, ataxia, spasticity, and mental retardation; probably autosomal recessive inheritance. SYN: Behr disease.
- Beradinelli s. accelerated growth, lipodystrophy with muscular hypertrophy, hepatomegaly, and lipemia.
- Berardinelli s. SYN: congenital total lipodystrophy.
- Bernard-Soulier s. a coagulation disorder characterized by thrombocytopenia, giant platelets, and a bleeding tendency.
- Bernhardt-Roth s. SYN: meralgia paresthetica.
- Bernheim s. systemic congestion resembling the consequences of right heart failure (enlarged liver, distended neck veins, and edema) without pulmonary congestion in subjects with left ventricular enlargement from any cause; reduction in the size of the right ventricular cavity is found by contrast imaging or echocardiography or at postmortem due to encroachment by the hypertrophied or aneurysmal ventricular septum.
- Besnier-Boeck-Schaumann s. SYN: sarcoidosis.
- Beuren s. supravalvular aortic stenosis with multiple areas of peripheral pulmonary arterial stenosis, mental retardation, and dental anomalies.
- Biemond s. [MIM*210350] iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly; probably an autosomal recessive inheritance disorder resembling Laurence-Moon and Bardet-Biedel syndromes.
- Björnstad s. [MIM*262000] pili torti associated with sensorineural hearing loss, the severity of distortion and brittleness of the hair correlated with the degree of hearing impairment; autosomal dominant inheritance.
- blind loop s. stagnation of intestinal contents with bacterial overgrowth producing substances that interfere with absorption of fat, vitamins, and other nutrients, usually occurs in a portion of small intestine that has been excluded from the flow of chyme.
- Bloch-Sulzberger s. SYN: incontinentia pigmenti.
- Bloom s. [MIM*210900] congenital telangiectatic erythema, primarily in butterfly distribution, of the face and occasionally of the hands and forearms, with sun sensitivity of skin lesions and dwarfism with normal body proportions except for a narrow face and dolichocephalic skull; chromosomes are excessively unstable and there is a predisposition to malignancy; autosomal recessive inheritance, caused by mutation in the Bloom s. gene (BLM) on chromosome 15q.
- blue diaper s. a disorder of tryptophan absorption; excess unabsorbed tryptophan in the intestine is metabolized to indoles and indicans, which are absorbed and lead to excretion of indican in the urine, which is oxidized in the diaper to indigo; patients also have hypercalcemia and nephrocalcinosis.
- blue toe s. progressive tissue injury or gangrene from microthromboembolism in the presence of palpable pedal pulses.
- Boerhaave s. rupture of the esophagus caused by increased intraluminal pressure during retching or vomiting with a closed glottis; results in mediastinitis and sometimes ruptures into the left pleural space.
- Bonnet-Dechaume-Blanc s. SYN: Wyburn-Mason s..
- Bonnier s. a s. due to a lesion of Deiters nucleus and its connection; the symptoms include ocular disturbances ( e.g., paralysis of accommodation, nystagmus, diplopia), as well as deafness, nausea, thirst, anorexia, and symptoms referable to the involvement of the vagus centers.
- Böök s. [MIM*112300] premolar aplasia, hyperhidrosis, and premature canities; autosomal dominant trait.
- BOR s. SYN: branchiootorenal dysplasia.
- Börjeson-Forssman-Lehmann s. [MIM*301900] a condition characterized by mental deficiency, epilepsy, hypogonadism, hypometabolism, obesity, large ears, and narrow palpebral fissures; X-linked recessive inheritance.
- bowel bypass s. recurrent fever, chills, malaise, and inflammatory cutaneous papules and pustules on the extremities and upper trunk with diffuse neutrophil infiltration, sometimes with polyarthralgia or polyarthritis following bowel bypass surgery.
- bradytachycardia s. (bra′de-ta-ke-car′de′a) alternate rapid and slow cardiac rates that may represent any rhythm disturbances in any combination usually related to sinus node disease. SYN: tachybradycardia s..
- branchiootorenal s. an autosomal dominant disorder characterized by anomalies of the branchial arch derivatives, sensory hearing impairment, and renal abnormalities.
- Briquet s. a chronic but fluctuating mental disorder, usually of young women, characterized by frequent complaints of physical illness involving multiple organ systems simultaneously.
- bronze baby s. a brown or bronze discoloration of the skin that may occur in children with hyperbilirubinemia who have received phototherapy.
- Brown-Séquard s. s. with unilateral spinal cord lesions, proprioception loss and weakness occur ipsilateral to the lesion, while pain and temperature loss occur contralateral. SYN: Brown-Séquard paralysis.
- burner s. multiple episodes of upper extremity burning pain, sometimes accompanied by shoulder girdle weakness, experienced during contact sports, especially football, with each forceful blow to the head or shoulder; attributed to an upper trunk brachial plexopathy.
- burning foot s. a disorder observed in prisoners-of-war in World War II, now believed to be due to a pantothenate deficiency.
- burning mouth s. a clinical condition in which the patient complains of a burning sensation in the oral cavity although the appearance of the oral mucosa is normal; the cause has not been determined.
- burning tongue s. a s. of pain in the tongue without apparent lesions, often associated with ageusia; more common in elderly women.
- Buschke-Ollendorf s. SYN: osteodermatopoikilosis.
- Caffey-Kempe s. battered child s..
- camptomelic s. also associated with flat facies, short vertebrae, hypoplastic scapula, and bowed tibia. SYN: osteochondrodysplasia.
- Capgras s. the delusional belief that a person (or persons) close to the schizophrenic patient has been substituted for by one or more impostors; may have an organic etiology. SYN: Capgras phenomenon, illusion of doubles.
- Caplan s. intrapulmonary nodules, histologically similar to subcutaneous rheumatoid nodules, associated with rheumatoid arthritis and pneumoconiosis in coal workers. SYN: Caplan nodules.
- carbonic anhydrase II deficiency s. an inherited deficiency of carbonic anhydrase II that results in osteopetrosis and metabolic acidosis. SYN: osteopetrosis with renal tubular acidosis.
- carcinoid s. a combination of symptoms and lesions mostly produced by the release of serotonin from carcinoid tumors of the gastrointestinal tract that have metastasized to the liver; consists of irregular mottled blushing, flat angiomas of the skin, acquired tricuspid and pulmonary stenosis often with regurgitation, occasionally with some minor involvement of valves on the left side of the heart, diarrhea, bronchial spasm, mental aberration, and excretion of large quantities of 5-hydroxyindoleacetic acid. SYN: malignant carcinoid s., metastatic carcinoid s..
- cardiofacial s. 1. transient or persistent unilateral partial lower facial paresis accompanying some congenital heart disease. 2. a group of syndromes characterized by congenital cardiovascular, bone, soft tissue, and facial abnormalities. Examples include Rubinstein-Taybi s., Noonan s. and Williams s..
- Caroli s. congenital malformation of the bile ducts within the liver leading to formation of multifocal cystic dilatations.
- carotid sinus s. stimulation of a hyperactive carotid sinus, causing a marked fall in blood pressure due to vasodilation, cardiac slowing, or both; syncope with or without convulsions or AV block may occur. SYN: Charcot-Weiss-Baker s..
- carpal tunnel s. the most common nerve entrapment s., characterized by nocturnal hand paresthesia and pain, and sometimes sensory loss and wasting in the median hand distribution; affects women more than men and is often bilateral; caused by chronic entrapment of the median nerve at the wrist, within the carpal tunnel.
- Carpenter s. the association of primary hypothyroidism, primary adrenocortical insufficiency, and diabetes mellitus. [C.C.J. Carpenter]
- cataract-oligophrenia s. SYN: Marinesco-Garland s..
- cat's cry s. SYN: cri-du-chat s..
- cat's-eye s. [MIM*115470] a chromosomal disorder characterized by iris colobomas (resembling the vertical pupils of a cat), downslanting palpebral fissures, anal atresia, preauricular tags and/or pits, heart and renal malformations, and, occasionally, mild mental retardation; associated with chromosome partial tetrasomy 22. SYN: Schmid-Fraccaro s..
- cauda equina s. involvement, often asymmetric, of multiple roots making up the cauda equina ( i.e., L2–S3 roots), manifested by pain, paresthesia, and weakness; often bladder and bowel sphincter function is unaffected because of sacral sparing (lack of compromise of the S2, S3, and S4 roots).
- cavernous sinus s. a s. caused by thrombosis of the cavernous intracranial sinus characterized by edema of eyelids and conjunctivae, and paralysis of the third, fourth and sixth nerves.
- cellular immunity deficiency s. a s. marked by increased susceptibility to infection, especially to viral infection, associated with defective functioning of the mechanism responsible for acquired immunity of the cell-mediated kind. SEE ALSO: immunodeficiency.
- central cord s. quadriparesis most severely involving the distal upper extremities, with or without sensory loss and bladder dysfunction, usually due to ischemia from osteophytic or traumatic compression of the central part of the cervical spinal cord and/or artery.
- cerebellar s. the signs and symptoms of cerebellar dysfunction : dysmetria, dysarthria, asynergia, nystagmus, ataxia, staggering gait, and adiadochokinesia.
- cerebellomedullary malformation s. SYN: Arnold-Chiari malformation.
- cerebellopontine angle s. a s. due most commonly to a lesion in the region between the cerebellum and pons that can affect multiple cranial nerves; may be marked by hearing loss, tinnitus, vertigo, ataxia, or facial weakness.
- cerebrohepatorenal s. [MIM*214100, MIM*211410] SYN: Zellweger s..
- cervical disk s. pain, paresthesias, and sometimes weakness in the area of the distribution of one or more cervical roots, due to pressure of a protruded cervical intervertebral disk. SYN: cervical compression s..
- cervical rib s. indefinite term, equally applicable to two different syndromes: 1) arterial thoracic outlet s., in which the subclavian artery is compromised by a fully formed cervical rib, and 2) true neurogenic thoracic outlet s., in which the proximal lower trunk of the brachial plexus is compromised by a translucent band extending from a rudimentary cervical rib to the first rib.
- cervicooculoacoustic s. [MIM*314600] a disorder characterized by a congenitally short neck with fused cervical vertebrae (Klippel-Feil anomaly), sixth cranial nerve paralysis with retraction of the eye globe and narrowing of the palpebral fissure on adduction (Duane palsy), and sensorineural deafness; inheritance is thought to be multifactorial with limitation to females. SYN: Wildervanck s..
- Cestan-Chenais s. contralateral hemiplegia, hemianesthesia, and loss of pain and temperature sensibility, with ipsilateral hemiasynergia and lateropulsion, paralysis of the larynx and soft palate, enophthalmia, miosis, and ptosis, due to lesions of the brainstem.
- chancriform s. an ulcerative lesion at the site of primary infection by microorganisms, with regional lymph node enlargement; it occurs not only in chancroid infections but also in various bacterial and fungal infections.
- Charcot s. SYN: intermittent claudication.
- CHARGE s. SYN: CHARGE association.
- Chauffard s. the symptoms of Still disease in one suffering from bovine or other nonhuman form of tuberculosis. SYN: Still-Chauffard s..
- Chédiak-Higashi s. [MIM*214500 and MIM*214450] a genetic disorder associated with abnormalities of granulation and nuclear structure of all types of leukocytes and with the presence of peroxidase-positive granules, cytoplasmic inclusions, and Dohle bodies; characterized by hepatosplenomegaly, lymphadenopathy, anemia, neutropenia, partial albinism, nystagmus, photophobia, and susceptibilities to infection and lymphoma; death usually occurs in childhood; occurs in mink, cattle, mice, killer whales, and humans; autosomal recessive inheritance, caused by mutation in the Chediak-Higashi gene (CHS) on chromosome 1q. SYN: Béguez César disease, Chédiak-Higashi disease, Chédiak-Steinbrinck-Higashi anomaly, Chédiak-Steinbrinck-Higashi s..
- cherry-red spot myoclonus s. a neuronal storage disorder in children characterized by a cherry-red spot at the macula, progressive myoclonus, and easily controlled seizures; the result of sialidase deficiency. Type 1 is characterized by normal body habitus, cherry-red macula, myoclonus, and normal β-galactosidase levels; type 2 by short stature, bony abnormalities, and deficient β-galactosidase. SYN: sialidosis.
- Chiari s. thrombosis of the hepatic vein with great enlargement of the liver and extensive development of collateral vessels, intractable ascites, and severe portal hypertension. SYN: Budd s., Budd-Chiari s., Chiari disease, Chiari-Budd s., Rokitansky disease (2).
- Chiari-Frommel s. unphysiological lactation and amenorrhea following pregnancy, but not caused by infant's nursing; characterized by hyperprolactinemia and a pituitary adenoma.
- Chiari II s. displacement of the medulla and cerebellar tonsils and vermis through the foramen magnum into the upper spinal canal; often associated with other cerebral anomalies.
- chiasma s. a s. characterized by a bitemporal visual field defect and optic nerve atrophy due to a lesion in or about the chiasm.
- CHILD s. congenital hemidysplasia with ichthyosiform erythroderma and limb defects.
- Chinese restaurant s. development of chest pain, feelings of facial pressure, and sensation of burning over variable portions of the body surface after ingestion of food containing monosodium l-glutamate (MSG) by persons sensitive to this food additive.
- chromosomal s. general designation for syndromes due to chromosomal aberrations; typically associated with mental retardation and multiple congenital anomalies.
- chromosomal instability syndromes, chromosomal breakage syndromes a group of mendelian conditions associated with chromosomal instability and breakage in vitro, they often manifest an increased tendency to certain types of malignancies. See Bloom s., xeroderma pigmentosum.
- chronic hyperventilation s. reduced CO2 content of the blood (hypocapnia) as a result of hyperventilation of prolonged duration; may occur in anxiety states and in some chronic organic, usually cardiovascular, disease; alkalemia, paresthesia, and tetany may occur.
- Churg-Strauss s. asthma, fever, eosinophilia, and varied symptoms and signs of vasculitis, primarily affecting small arteries, with vascular and extravascular granulomas. SYN: allergic granulomatosis, allergic granulomatous angiitis.
- Cianca s. a severe form of infantile esotropia characterized by cross-fixation and tight medial rectus muscles.
- Claude s. midbrain s. with oculomotor palsy on the side of the lesion and incoordination on the opposite side.
- click s. a s., particularly of the atrioventricular valves, in which systole causes a sudden tensing of a scallop of a valve or an entire cusp producing the auscultatory click.
- climacteric s. SYN: menopausal s..
- cloverleaf skull s. [MIM*148800] intrauterine bone dysplasia and synostosis of the coronal and lambdoid sutures producing a trilobar head shape, sometimes associated with exophthalmos, and various craniofacial and long-bone anomalies; the condition is sporadic.
- Cobb s. cutaneous capillary malformation, usually in a dermatomal distribution on the trunk, associated with vascular abnormality of the spinal cord and resulting neurologic symptoms. SYN: cutaneomeningospinal angiomatosis.
- Cockayne s. [MIM*216400 and MIM*216411] dwarfism, precociously senile appearance, pigmentary degeneration of the retina, optic atrophy, deafness, sensitivity to sunlight, microcephaly, and mental retardation; autosomal recessive inheritance associated with defective excision repair of DNA. There are various complementation groups. SYN: Cockayne disease.
- Coffin-Lowry s. [MIM*303600] characterized by coarse facial features with bulbous nose, large ears, and thick lips; short stature; tapered fingers; skeletal anomalies and mental retardation. X-linked recessive inheritance, caused by mutation in the ribosomal S6 kinase gene (RSK) on chromosome Xp.
- Coffin-Siris s. [MIM*135900] characterized by mental retardation, bulbous nose, flat nasal bridge, moderate hirsutism, and digital anomalies with absence or hypoplasia of the nail and terminal phalanx of the fifth finger and/or the fifth toe; probably autosomal dominant inheritance. SYN: fifth digit s..
- Collet-Sicard s. unilateral lesions of the ninth, tenth, eleventh, and twelfth cranial nerves producing Vernet s. and paralysis of the tongue on the same side.
- compartment s. a condition in which increased pressure in a confined anatomical space adversely affects the circulation and threatens the function and viability of the tissues therein.
- complete androgen insensitivity s. SYN: testicular feminization.
- compression s. SYN: crush s..
- congenital rubella s. fetal infection with rubella virus during the first trimester of pregnancy resulting in a series of congenital abnormalities including heart disease, deafness, and blindness.
- Conradi-Hünermann s. one of the syndromes of chondrodysplasia punctata (q.v.), autosomal dominant, with variable skin keratinization disorders and facial, cardiac, optic, and central nervous system abnormalities; epiphyseal stippling is also present.
- corpus luteum deficiency s. functional disturbances caused by insufficient ovarian luteinization; reflected by inadequate luteal phase endometrial response.
- Costen s. a symptom complex of loss of hearing, otalgia, tinnitus, dizziness, headache, and burning sensation of the throat, tongue, and side of the nose; originally attributed to temporomandibular joint dysfunction resulting from occlusal disharmony, but currently recognized as not being well founded on anatomic and physiologic principles.
- costoclavicular s. one of the forerunners of thoracic outlet s., in which the subclavian artery and vein and, on later reports, the brachial plexus, were thought to be compressed between the clavicle and normal first rib, with the assumption of certain body postures, e.g., the military brace position.
- Cotard s. psychotic depression involving delusion of the existence of one's body, along with ideas of negation and suicidal impulses.
- Crandall s. [MIM*262000] characterized by pili torti, sensorineural deafness, and hypogonadism; a familial trait in which there is a deficiency of luteinizing and of growth hormone. SEE ALSO: Björnstad s..
- CREST s. a variant of systemic sclerosis characterized by calcinosis, Raynaud phenomenon, esophageal motility disorders, sclerodactyly, and telangiectasia.
- cri-du-chat s., cri du chat s., cat-cry s. a disorder due to deletion of the short arm of chromosome 5, characterized by microcephaly, hypertelorism, antimongoloid palpebral fissures, epicanthal folds, micrognathia, strabismus, mental and physical retardation, and a characteristic high-pitched catlike whine. SYN: cat's cry s., Lejeune s..
- Crigler-Najjar s. [MIM*218800] a rare defect in ability to form bilirubin glucuronide due to deficiency of bilirubin-glucuronide glucuronosyltransferase; characterized by familial nonhemolytic jaundice and, in its severe form, by irreversible brain damage in infancy that resembles kernicterus and may be fatal; autosomal recessive inheritance, caused by mutation in the uridine diphosphate glycosyltransferase 1 gene (UGT1) on chromosome 1q. There is an autosomal dominant form called Gilbert s., also caused by mutation in the UGT1 gene. SYN: Crigler-Najjar disease.
- crocodile tears s. a flow of tears, usually unilateral, upon eating or the anticipation of eating; this happens when nerve fibers originally destined for a salivary gland are damaged and regrow, aberrantly, into the lacrimal gland.
- Cronkhite-Canada s. [MIM*175500] a sporadically occurring s. of gastrointestinal polyps with diffuse alopecia and nail dystrophy; probably not genetic.
- Crouzon s. [MIM*123500] craniosynostosis with broad forehead, ocular hypertelorism, exophthalmos, beaked nose, and hypoplasia of the maxilla; autosomal dominant inheritance, caused by mutation in the fibroblast growth factor receptor 2 gene (FGFR2) on chromosome 10q. Crouzon s. with acanthosis nigricans is due to mutation in the fibroblast growth factor receptor 3 gene (FGFR3) on 4p. SYN: craniofacial dysostosis, Crouzon disease.
- Crow-Fukase s. SYN: POEMS.
- crush s. the shocklike state that follows release of a limb or limbs or the trunk and pelvis after a prolonged period of compression, as by a heavy weight; characterized by suppression of renal function, probably the result of damage to the renal tubules by myoglobin from the damaged muscles. SYN: compression s..
- Cruveilhier-Baumgarten s. cirrhosis of the liver with patent umbilical or paraumbilical veins and varicose periumbilical veins (caput medusae). SYN: Cruveilhier-Baumgarten disease.
- cryptophthalmus s. SYN: Fraser s..
- cubital tunnel s. a group of symptoms that develop from compression of the ulnar nerve within the cubital tunnel at the elbow; can include paresthesia into the 4th and 5th digits and weakness of the intrinsic muscles of the hand.
- Cushing s. a disorder resulting from increased adrenocortical secretion of cortisol (giving clinical picture of Cushing disease), due to any one of several sources: ACTH-dependent adrenocortical hyperplasia or tumor, ectopic ACTH-secreting tumor, or excessive administrations of steroids; characterized by trunkal obesity, moon face, acne, abdominal striae, hypertension, decreased carbohydrate tolerance, protein catabolism, psychiatric disturbances, and osteoporosis, amenorrhea, and hirsutism in females; when associated with an ACTH-producing adenoma, called Cushing disease. SYN: Cushing basophilism.
- Cushing s. medicamentosus a variable number of the signs and symptoms of Cushing s.; produced by the chronic administration of large doses of any steroid that is a potent glucocorticoid.
- cutaneomucouveal s. SYN: Behçet s..
- Dandy-Walker s. [MIM*304340] developmental anomaly of the fourth ventricle associated with atresia of the foramina of Luschka and Magendie that results in cerebellar hypoplasia, hydrocephalus, and posterior fossa cyst formation.
- dead arm s. sensory diminution or loss in the arm after anterior shoulder dislocation or subluxation.
- dead fetus s. s. characterized by lengthy intrauterine retention of a dead fetus usually greater than 4 weeks with development of hypofibrinogenemia and occasionally disseminated intravascular coagulopathy.
- dead-in-bed s. the finding of young, insulin-dependent diabetics without previous illness or abnormal glucose control dead in bed in the morning. Assumed to be due to hypoglycemia but it has been difficult to establish that fact postmortem. Usually occurs in diabetics taking three daily doses of insulin, suggesting inadvertent administration of erroneous dose, with lack of awareness of hypoglycemia during sleep.
- Debré-Sémélaigne s. SYN: Kocher-Debré-Sémélaigne s..
- de Clerambault s. erotomania accompanied by the delusional belief that a certain person is in love with you.
- Dejerine-Klumpke s. SYN: Klumpke palsy.
- de Lange s. [MIM 122470] a multiple congenital anomaly s. characterized by mental retardation, distinctive facies with microcephaly, synophrys, low anterior hairline, depressed nasal bridge, anteverted nares, long philtrum, carp mouth, thin upper lip and low-set ears, prenatal and postnatal growth retardation, hirsutism, and frequently, limb anomalies. Genetics unclear, though some instances appear to be autosomal dominantly inherited. SYN: Amsterdam s., Cornelia de Lange s..
- Del Castillo s. SYN: Sertoli-cell-only s..
- de Morsier s. SYN: septooptic dysplasia.
- depersonalization s. SYN: depersonalization.
- depressive s. SYN: depression (4).
- dermatitis-arthritis-tenosynovitis s. disseminated infection with Neisseria gonorrhoeae, causing skin lesions (often pustular or necrotic), plus synovitis of major joints (such as knee, ankle, elbow) and tendon sheaths.
- De Sanctis-Cacchione s. [MIM*278800] xeroderma pigmentosum with mental deficiency, dwarfism, and gonadal hypoplasia; autosomal recessive inheritance associated with defective DNA repair following damage by ultraviolet irradiation.
- s. of deviously relevant answers SYN: Ganser s..
- dialysis disequilibrium s. nausea, vomiting, and hypertension, occasionally with convulsions, developing within several hours after starting hemodialysis for renal failure; apparently caused by too rapid removal of urea from the extracellular fluid compartment, with movement of water into cells, and cerebral edema.
- dialysis encephalopathy s. a progressive, often fatal, diffuse encephalopathy occurring in a few patients on chronic hemodialysis; to be differentiated from the relatively acute, self-limited dialysis disequilibrium s.. SYN: dialysis dementia.
- diencephalic s. of infancy profound emaciation after initial normal growth, locomotor hyperactivity and euphoria, usually with skin pallor, hypotension, and hypoglycemia; usually due to neoplasm involving the anterior hypothalamus.
- Di Ferrante s. [MIM*253230] associated with a deficiency of N-acetylglucosamine 6-sulfatase and urinary excretion of heparan sulfate and keratan sulfate. SYN: type VII mucopolysaccharidosis (2).
- DiGeorge s. [MIM*188400] a condition arising from developmental failure of the third and fourth pharyngeal pouches, resulting in the absence or underdevelopment of the thymus and parathyroid gland, associated with abnormalities of the outflow tract of the heart, distinctive facies, hypoparathyroidism, hypocalcemia with tetany, and deficiency in T-cell immunity; this is a contiguous gene deletion s. involving chromosome 22q11; autosomal dominant inheritance. SYN: congenital aplasia of thymus, immunodeficiency with hypoparathyroidism, pharyngeal pouch s., third and fourth pharyngeal pouch s., thymic hypoplasia.
- Di Guglielmo s. [MIM*133180] SYN: Di Guglielmo disease.
- disconnection s. general term for various neurological disorders due to interruption of fiber pathways of the cerebrum.
- disk s. a constellation of symptoms and signs, including pain, paresthesias, sensory loss, weakness, and impaired reflexes, due to a compressive radiculopathy caused by intervertebral disk pressure.
- disputed neurogenic thoracic outlet s. a highly controversial disorder in which the brachial plexus is reputedly repressed at one or more sites along its course, particularly within the interscalene triangle, and between the normal first thoracic rib and some other structures; frequently attributed to trauma (particularly automobile accidents), and most often diagnosed in young to middle-aged women; no characteristic clinical presentation, although forequarter pain is characteristic; no definite objective findings are present, and no undisputed ancillary diagnostic studies are available.
- distal intestinal obstructive s. a s. seen in cystic fibrosis secondary to impaction with feces and inspissated mucus.
- Donohue s. SYN: leprechaunism.
- Doose s. a rare familial type of primary, generalized myoclonic astatic epilepsy characterized by a 2–3- or 4–6-Hz spike and wave complexes in the EEG; the condition usually responds to medication.
- Dorfman-Chanarin s. [MIM*275630] congenital ichthyosis, leukocyte vacuoles, and variable involvement of other organ systems. SYN: neutral lipid storage disease.
- Down s. a chromosomal dysgenesis s. consisting of a variable constellation of abnormalities caused by triplication or translocation of chromosome 21. The abnormalities include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, and transverse palmar crease. Lenticular opacities and heart disease are common. The incidence of leukemia is increased and Alzheimer disease is almost inevitable by age 40. SYN: trisomy 21 s..
- dry eye s. SYN: keratoconjunctivitis sicca.
- Duane s. SYN: retraction s..
- Dubin-Johnson s. [MIM*237500] an inherited defect in hepatic excretory function characterized by jaundice with levels of serum bilirubin up to about 6 mg/dL, over half of which is conjugated, and excretion of abnormal proportions of coproporphyrin I in urine. There is also retention of a dark pigment in the hepatocytes that is derived either from melanin or catecholamines, but otherwise liver histology is normal. Oral cholecystogram fails to visualize the gallbladder, and excretion of test substances ( e.g., bromosulfothalein) by the liver is abnormal. The basic defect is apparently in canalicular transport. No therapy is necessary; autosomal recessive inheritance caused by mutation in the canalicular multispecific organic anion transporter gene (CMOAT) on 10q. SYN: chronic idiopathic jaundice.
- Dubreuil-Chambardel s. simultaneous caries of the upper incisor teeth occurring in either sex between the ages of 14 and 17; after an interval of varying length the other teeth also become involved.
- dumping s. the s. that occurs after eating, most often seen in patients with shunts of the upper alimentary canal; characterized by flushing, sweating, dizziness, weakness, and vasomotor collapse, resulting from rapid passage of large amounts of food into the small intestine, with an osmotic effect removing fluid from plasma and causing hypovolemia. SYN: early dumping s., postgastrectomy s..
- Dyggve-Melchior-Clausen s. [MIM*223800] a skeletal dysplasia that has some clinical resemblance to Morquio s. but without mucopolysacchariduria; characterized by mental retardation, short-trunk dwarfism, progressive sternal bulging, restricted joint mobility, waddling gait, and radiographic findings of irregular iliac crests and flattening of vertebral bodies; autosomal recessive inheritance. There is an X-linked form [MIM*304950].
- dysarthria–clumsy hand s. a disorder characterized by dysarthria and a clumsiness of one hand, caused by a lacunar stroke in the basis pontis.
- dyskinesia s. [MIM*242650] clearance of mucus is sluggish and bronchiectasis is prevalent and intractable. There is evidence that the defect lies in dynein, a protein in the cilia. The pattern of inheritance is apparently autosomal recessive.
- dysmnesic s. SYN: Korsakoff s..
- ectopic ACTH s. the association of Cushing s. with a non-pituitary neoplasm, usually a lung carcinoma that produces ACTH.
- ectrodactyly–ectodermal dysplasia–clefting s. an autosomal recessive disorder resulting in defects of hands and feet; the ectodermal dysplasia causes fair skin, anodontia, and cleft palate.
- egg-white s. dermatitis, loss of hair, and loss of muscle coordination, produced in rats by diets containing large amounts of raw egg white, the avidin of which combines with biotin producing a deficiency of the latter. SYN: egg-white injury.
- Ehlers-Danlos s. (EDS) a group of connective tissue disorders characterized by hyperelasticity and fragility of the skin, hypermobility of the joints, and fragility of the cutaneous blood vessel s and sometimes large arteries due to deficient quality or quantity of collagen; the most common types are inherited as autosomal dominant, caused by mutation in one of the following genes: the collagen V alpha-1 gene (COL5A1) on chromosome 9q or the collagen V alpha-2 gene (COL5A2) on 2q or COL3A1 gene on 2q.
- Eisenmenger s. cardiac failure with significant right-to-left shunt producing cyanosis due to higher pressure on the right side of the shunt. Usually due to the Eisenmenger complex, a ventricular septal defect with right ventricular hypertrophy and dilatation, severe pulmonary hypertension, and frequent straddling of the defect by a misplaced aortic root.
- Ekbom s. SYN: restless legs s..
- Ellis-van Creveld s. SYN: chondroectodermal dysplasia.
- E-M s. SYN: eosinophilia-myalgia s..
- EMG s. SYN: Beckwith-Wiedemann s..
- encephalotrigeminal vascular s. angiomatosis of the brain accompanied by nevi in the trigeminal area. SEE ALSO: Sturge-Weber s..
- eosinophilia-myalgia s. a probable autoimmune disorder precipitated by contaminated l-tryptophan tablets, and characterized by fatigue, low-grade fever, myalgias, muscle tenderness and cramps, weakness, paresthesias of the extremities, and skin indurations; marked eosinophilia is noted on peripheral blood studies, serum aldolase is increased, and biopsies of peripheral nerve, muscle, skin, and fascia show microangiopathy and inflammation in connective tissue. SYN: E-M s..
- episodic dyscontrol s. SYN: intermittent explosive disorder.
- erythrodysesthesia s. tingling sensation of the palms and soles, progressing to severe pain and tenderness with erythema and edema; caused by continuous infusion therapy.
- euthyroid sick s. abnormalities in levels of hormones and function tests related to the thyroid gland occurring in patients with severe systemic disease. Thyroid function is actually normal in these patients, and it is uncertain whether treatment of these abnormalities would be beneficial. SYN: sick euthyroid s..
- exfoliation s. SYN: pseudoexfoliation s..
- extrapyramidal s. abnormalities of movement related to injury of motor pathways other than the pyramidal tract.
- Faber s. SYN: achlorhydric anemia.
- false memory s. an apparent memory of an imagined event, usually traumatic and remote in time; generally used pejoratively to imply that the memory was engendered by the therapist facilitating its recovery; a controversial concept.
- familial aortic ectasia s. the concurrence as an autosomal dominant trait of bicuspid aortic valve often with premature calcification, ectasia, and dissection of the aorta and, rarely, coarctation of the aorta. Superficially resembles the Marfan s.. SYN: familial aortic ectasia.
- familial chylomicronemia s. an inherited disorder resulting in accumulation of chylomicrons as well as triacylglycerols. SEE ALSO: chylomicronemia.
- Fanconi s. [MIM*227650–227660] 1. SYN: Fanconi anemia. 2. a group of conditions with characteristic disorders of renal tubular function, which may be classified as: 1) cystinosis, an autosomal recessive disease of early childhood; 2) adult Fanconi s., a rare hereditary form, probably due to a recessive gene different from that found in cystinosis, characterized by the tubular malfunction seen in cystinosis and by osteomalacia, but without cystine deposit in tissues; 3) acquired Fanconi s., which may be associated with multiple myeloma or may result from chemical poisoning, injury, or persisting damage of proximal tubular epithelium due to various causes, leading to multiple defects of tubular function.
- FAPA s. a s. of unknown etiology that causes periodic bouts of fever, adenitis, pharyngitis, and aphthous ulcers.
- Farber s. [MIM*228000] SYN: disseminated lipogranulomatosis.
- Favre-Racouchot s. SYN: Favre-Racouchot disease.
- fetal alcohol s. a pattern of malformation with growth deficiency, craniofacial anomalies, and functional deficits including mental retardation found among offspring of mothers who abuse alcohol.
- fetal aspiration s. a s. resulting from uterine aspiration of amniotic fluid and meconium by the fetus, usually caused by hypoxia and often leading to aspiration pneumonia. SYN: meconium aspiration s..
- fetal face s. a s. of facies resembling an early fetus with short forearms, and genital hypoplasia at birth, but without evidence of achondroplasia; leads to dwarfism without mental retardation.
- fetal hydantoin s. a s. resulting from maternal ingestion of hydantoin analog ( e.g., phenytoin), characterized by growth deficiency, mental deficiency, dysmorphic facies, cleft palate and/or lip, cardiac defects, and abnormal genitalia.
- fetal trimethadione s. a s. resulting from maternal ingestion of trimethadione during the early weeks of pregnancy and characterized by developmental delay, V-shaped eyebrows, epicanthus, low-set ears with anteriorly folded helix, palatal anomaly, and irregular teeth.
- fetal warfarin s. fetal bleeding, nasal hypoplasia, optic atrophy, and death resulting from ingestion of warfarin by the pregnant patient.
- fibrinogen-fibrin conversion s. a s. characterized by hypofibrinogenemia with incoagulable blood; it may be seen in abruptio placentae, prolonged retention of a dead fetus in an Rh-isosensitized mother, hemolytic blood reactions, bilateral renal cortical necrosis, and cases of trauma.
- fibromyalgia s. SYN: fibromyalgia.
- first arch s. generic term including syndromes of malformations involving derivatives of the first branchial arch, with or without associated malformations; includes mandibulofacial dysostosis, micrognathia with peromelia, otomandibular dystosis, acrofacial dysostosis, and others.
- Fisher s. a s. characterized by ophthalmoplegia, ataxia, and areflexia; a form of polyneuroradiculitis.
- Fitz-Hugh and Curtis s. perihepatitis in women with a history of gonococcal or chlamydial salpingitis.
- flashing pain s. [MIM*190400] sudden, intermittent, and severe brief episodes of pain, without apparent cause, in the distribution of a spinal dermatome; resembles in character the pain of tic douloureux. Cf.:tic douloureux.
- flecked retina s. [MIM*228980] hereditary retinal disorder with abnormal transmission of fluorescence through the retinal pigment epithelium on angiography.
- floppy valve s. retrograde slippage of degenerating mitral or tricuspid valve leaflets into the valve's orifice beyond the point of closure during systole of the left ventricle; a feature of Barlow s..
- Flynn-Aird s. [MIM*136300] a familial s. characterized by muscle wasting, ataxia, dementia, skin atrophy, dental caries, joint stiffness, retinitis pigmentosa, and progressive sensorineural hearing loss; autosomal dominant inheritance.
- Foix-Alajouanine s. thrombophlebitis of spinal veins resulting in a subacute ascending painful flaccid paralysis from necrotic myelitis.
- Foix-Cavany-Marie s. constellation of faciopharyngoglossomasticatory diplegia with automatic voluntary dissociation without associated dementia or forced laughing or crying usually caused by bilateral large artery infarcts of the opercular cortex.
- folded-lung s. SYN: rounded atelectasis.
- Forbes-Albright s. pituitary tumor in a patient without acromegaly, which secretes excessive amounts of prolactin (LTH) and produces persistent lactation.
- Foster Kennedy s. SYN: Kennedy s..
- Foville s. a form of alternating hemiplegia characterized by abducens paralysis on one side, paralysis of the extremities on the other.
- fragile X s. an X-linked recessive s. [MIM*309550] consisting of mental retardation, a characteristic facies, and macroorchidism; DNA analysis shows abnormal trinucleotide repeats on the X chromosome near the end of its long arm, at Xq27.3; a constriction is demonstrable at this site on karyotyping after culture in folate-deficient medium. SYN: FMR1, marker X s., Martin-Bell s..The incidence of fragile X s. (about 1:2000 in males) is second only to that of Down s. among genetically identifiable sources of mental retardation. Phenotypic expression is variable, but mental retardation is the most commonly observed feature. The face is long and narrow, with large ears, a prominent mandibular symphysis, and a high-arched palate. Absolute or relative macrocephaly is common. Macroorchidism appears at puberty or before; histologic study shows only edema of the testis. Connective tissue abnormality may be manifested by hypermobility of fingers and other joints, pes planus, dilation of the aorta, and mitral valve prolapse. Besides intellectual impairment, neuropsychiatric findings include hyperactivity, short attention span, poor eye contact, autistic-like behavior, jocular speech, echolalia, and motor incoordination. The IQ may deteriorate with advancing age. A few males with this genetic defect, and about two-thirds of females, are phenotypically normal. Expression depends on a mutation that occurs in two or more steps and that is both meiotically and mitotically unstable. Transmission is complex and varies with the gender of both the proband and the transmitting parent. The fragile chromosomal locus represents a site of abnormal amplification with a variable number of CGG repeats. These block transcription of the FMR1 (familial mental retardation) gene, which normally encodes FMR1 protein; clinical expression is due to failure to synthesize FMR1 protein and to abnormal methylation of DNA sequences distal to the fragile site.
- Fraley s. dilation of the upper pole renal calices due to stenosis of the upper infundibulum, usually caused by compression from vessels supplying the upper and middle segments of the kidney.
- Franceschetti s. mandibulofacial dysostosis, when complete or nearly complete.
- Fraser s. [MIM*219000] an association of cryptophthalmus with multiple anomalies, including middle and outer ear malformations, cleft palate, laryngeal deformity, displacement of umbilicus and nipples, digital malformations, separation of symphysis pubis, maldevelopment of kidneys, and masculinization of genitalia in females; autosomal recessive inheritance. SYN: cryptophthalmus s..
- Freeman-Sheldon s. SYN: craniocarpotarsal dystrophy.
- Friderichsen-Waterhouse s. SYN: Waterhouse-Friderichsen s..
- Fröhlich s. SYN: adiposogenital dystrophy.
- Froin s. an alteration in the cerebrospinal fluid, which is yellowish and coagulates spontaneously in a few seconds after withdrawal, owing to its greatly increased protein (albumin and globulin) content; noted in loculated portions of the subarachnoid space isolated from spinal fluid circulation by an inflammatory or neoplastic obstruction. SYN: loculation s..
- Fuchs s. [MIM*136800] a s. characterized by corneal degeneration, heterochromia of the iris, iridocyclitis, keratic precipitates, and cataract; probably autosomal dominant inheritance. SYN: Fuchs heterochromic cyclitis.
- functional prepubertal castration s. a s. characterized by the absence of testes from the scrotum but in their place mesonephric duct derivatives, pronounced gynecomastia and eunuchoid habitus, and increased plasma levels and urinary excretion of gonadotrophins.
- G s. [MIM*145410] a s. of characteristic facies associated with hypospadias, ventral curvature of the penis, and dysphagia. Apparently the same as the BBB s. of Opritz et al. Autosomal dominant inheritance. [first letter of surname of affected person reported]
- Gaisböck s. SYN: polycythemia hypertonica.
- Ganser s. a psychoticlike condition, without the symptoms and signs of a traditional psychosis, occurring typically in prisoners who feign insanity; e.g., such a person, when asked to multiply 6 by 4, will give 23 as the answer, or will call a key a lock. See malingering, factitious disorder. SYN: nonsense s., s. of approximate relevant answers, s. of deviously relevant answers.
- Gardner s. [MIM*175100-0006] multiple polyposis predisposing to carcinoma of the colon; also multiple tumors, osteomas of the skull, epidermoid cysts, and fibromas; autosomal dominant inheritance, caused by mutation in the adenomatous polyposis coli gene (APC) on chromosome 5q. This disorder is allelic to familial adenomatous polyposis (FAP).
- Gardner-Diamond s. SYN: autoerythrocyte sensitization s..
- gastrocardiac s. disturbances of the heart's action due to faulty action of the digestive system, especially of the stomach.
- gay bowel s. gastrointestinal discomfort experienced by homosexual males; includes abdominal pain, cramps, bloating, flatulence, nausea, vomiting, or diarrhea caused by enteric bacteria, viruses, fungi, zooparasites, or trauma.
- Gélineau s. SYN: narcolepsy.
- gender dysphoria s. a s. in which an individual experiences marked personal stress due to feelings that despite having the genitalia and secondary sexual characteristics of one gender there is a sense of compatibility and greater belonging to the other gender class; one may undergo surgery to reconstruct anatomy to that of the other gender.
- general adaptation s. a s. introduced by Hans Selye to describe marked physiological changes in various organ systems of the body, especially the pituitary-endocrine system, as a result of exposure to prolonged physical or psychological stress, with the bodily changes progressing through three stages that the author described as the alarm reaction, resistance, and finally exhaustion.
- Gerstmann s. finger agnosia, agraphia, confusion of laterality of body, and acalculia; caused by lesions between the occipital area and the angular gyrus.
- Gianotti-Crosti s. a cutaneous manifestation of hepatitis B infection occurring in young children; an exanthem comprising nonpruritic dusky papules on the legs, buttocks, and extensors of the arms; Gianotti-Crosti s. lasts 2–8 weeks and is associated with adenopathy, anicteric hepatomegaly, and malaise. SYN: papular acrodermatitis of childhood.
- Gilles de la Tourette s. [MIM*137580] SYN: Tourette s..
- Gillespie s. s. of congenital absence of the iris, mental retardation, and cerebellar ataxia; etiology unknown.
- Gitelman s. a disorder seen in older children and young adults characterized by hypokalemia, hypomagnesemia, hypocalciuria, and sometimes tetany.
- glucagonoma s. necrolytic migratory erythema or intertriginous and periorofacial dermatitis, stomatitis, anemia, weight loss, and hyperglycemia resulting from glucagon-secreting pancreatic islet cell tumors.
- Goldenhar s. [MIM*257700] SYN: oculoauriculovertebral dysplasia.
- gold-myokymia s. the symptom complex of widespread myokymia, muscle aching, and autonomic disturbances (excess sweating, orthostatic hypotension) that can result from gold therapy.
- Goodpasture s. [MIM*233450] glomerulonephritis of the anti-basement membrane type associated with or preceded by hemoptysis; the nephritis usually progresses rapidly to produce death from renal failure, and the lungs at autopsy show extensive hemosiderosis or recent hemorrhage.
- Gopalan s. severe discomfort of the feet associated with elevated skin temperature and excessive sweating.
- Gorlin-Chaudhry-Moss s. [MIM*233500] craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, and dental and ocular abnormalities. SEE ALSO: Weill-Marchesani s..
- Gowers s. s. consisting of palpitation, chest pain, respiratory difficulties, and disturbances in gastric motility; once attributed to vagal stimulation, now considered psychogenic (anxiety neurosis). SYN: vagal attack, vasovagal attack, vasovagal s..
- Gradenigo s. a s. consisting of otorrhea, headache, diplopia, and retroorbital pain in petrositis due to an epidural abscess at the apex of the anterior surface of the petrous pyramid causing compression of the abducens nerve in Dorello canal and irritation of the trigeminal ganglion.
- gray s., gray baby s. gray appearance of an infant at birth and during the neonatal period which can be caused by transplacental toxic effects of the drug chloramphenicol taken by the mother during late pregnancy; the s. may be fatal.
- Greig cephalopolysyndactyly s. [MIM*175700] an autosomal dominant disorder characterized by polysyndactyly of the hands and feet, macrocephaly, frontal bossing, hypertelorism, and flat nasal bridge, caused by mutation in the GLI3 gene on chromosome 7p13.
- Grönblad-Strandberg s. angioid streaks of the retina together with pseudoxanthoma elasticum of the skin.
- Gubler s. a form of alternating hemiplegia characterized by contralateral hemiplegia and ipsilateral facial paralysis. SYN: Gubler paralysis, Millard-Gubler s..
- Guillain-Barré s. an acute, immune-mediated disorder of peripheral nerves, spinal roots, and cranial nerves, commonly presenting as a rapidly progressive, areflexive, relatively symmetric ascending weakness of the limb, truncal, respiratory, pharyngeal, and facial musculature, with variable sensory and autonomic dysfunction; typically reaches its nadir within 2–3 weeks, followed initially by a plateau period of similar duration, and then subsequently by gradual but complete recovery in the majority of cases. Guillain-Barré s. is often preceded by a respiratory or gastrointestinal infection and is associated with albuminocytologic dissociation of the cerebral spinal fluid. Although classically considered pathologically to be an acute, inflammatory demyelinating polyradiculoneuropathy (q.v.), pure axon degeneration forms recently have been recognized. SYN: acute idiopathic polyneuritis, acute inflammatory polyneuropathy, infectious polyneuritis, Landry paralysis, Landry s., Landry-Guillain-Barré s., myeloradiculopolyneuronitis, postinfectious polyneuritis.
- Gulf War s. a term often but inappropriately applied to various health problems experienced by U.S. military personnel after serving in the Persian Gulf conflict of 1991; symptoms of fatigue, musculoskeletal pain, headaches, dyspnea, memory loss, and diarrhea have been reported, but an NIH panel has concluded that evidence of a specific disease is lacking. SYN: Persian Gulf s..
- Gunn s. SYN: jaw-winking s..
- Guyon tunnel s. entrapment or compression of the ulnar nerve within Guyon canal as the ulnar nerve passes into the wrist.
- Haber s. a permanent flushing and telangiectasia of the cheeks, nose, forehead, and chin, with prominent follicular openings, small papules with scaling, and minute pitted areas; occasionally accompanied by scaly and keratotic lesions of the trunk.
- HAIR-AN s. hyperandrogenism, insulin resistance, and acanthosis nigricans; virilization in pubertal girls associated with markedly elevated insulin levels and normal levels of luteinizing hormone and follicle-stimulating hormone. [hyperandrogenism, insulin resistance, acanthosis nigricans]
- Hallermann-Streiff s. SYN: dyscephalia mandibulo-oculofacialis.
- Hallermann-Streiff-François s. SYN: dyscephalia mandibulo-oculofacialis.
- Hallervorden s. SYN: Hallervorden-Spatz s..
- Hallervorden-Spatz s. a disorder characterized by dystonia with other extrapyramidal dysfunctions appearing in the first two decades of life; associated with large amounts of iron in the globus pallidus and substantia nigra. SYN: Hallervorden s., Hallervorden-Spatz disease, status dysmyelinisatus.
- Hallgren s. vestibulocerebellar ataxia, pigmentary retinal dystrophy, congenital deafness, and cataract.
- Hamman s. spontaneous mediastinal emphysema, resulting from rupture of alveoli. SYN: Hamman disease.
- Hamman-Rich s. SYN: idiopathic pulmonary fibrosis.
- hand-and-foot s. recurrent painful swelling of the hands and feet occurring in infants and young children with sickle cell anemia. SYN: sickle cell dactylitis.
- hand-foot s. a painful desquamative s. associated with 5-fluorouracil, especially if given in a continuous administration and with cytarabine.
- Hanhart s. SYN: micrognathia with peromelia.
- hantavirus pulmonary s. a febrile disease caused by several species of Hantavirus (Andes, Bayou, Black Creek Canal, New York, and Sin Nombre viruses) in North and South America and characterized by thrombocytopenia, leukocytosis, and capillary leakage in the lungs, with death due to shock and cardiac complications.
- happy puppet s. [MIM*234400] a s. characterized by mental retardation, ataxia, hypotonia, epileptic seizures, easily provoked and prolonged spasms of laughter, prognathism, and an open-mouthed expression.
- Harada s. bilateral retinal edema, uveitis, choroiditis, and retinal detachment, with temporary or permanent deafness, graying of the hair (poliosis), and alopecia; related to the Vogt-Koyanagi s. and sympathetic ophthalmia. SYN: Harada disease, uveoencephalitis, uveomeningitis s..
- Harris s. excessive insulin production with hypoglycemia, hunger, jitteriness, tachycardia, and flushing occurring in conditions such as functional disorders of the pancreas, hyperplasia of the islets of Langerhans, or insulinoma.
- head-bobbing doll s. bobbing motion of the head usually due to cysts in or about the third ventricle.
- Hegglin s. dissociation between electromechanical systole (QSII interval) and electrical systole (QT interval) so that the second heart tone (SII) is recorded before the end of the T wave; described by Hegglin as an energy-dynamic cardiac insufficiency during diabetic coma and other metabolic disorders.
- HELLP s. type of severe preeclampsia involving hemolysis, elevated liver function, and low platelets.
- Helweg-Larssen s. [MIM*125050] an autosomal dominant disorder characterized by anhidrotic ectodermal dysplasia and hearing loss, the latter developing in the fourth or fifth decade.
- hemolytic uremic s. hemolytic anemia and thrombocytopenia occurring with acute renal failure; in children, characterized by sudden onset of gastrointestinal bleeding, hematuria, oliguria, and microangiopathic hemolytic anemia; in adults, associated with complications of pregnancy following normal delivery, or associated with oral contraceptive use or with infection; often caused by infection with Escherichia coli.
- Henoch-Schönlein s. SYN: Henoch-Schönlein purpura.
- hepatorenal s., hepatonephric s. the occurrence of acute renal failure in patients with disease of the liver or biliary tract, apparently due to decreased renal blood flow and conditions that damage both organs, such as carbon tetrachloride poisoning and leptospirosis.
- Herlitz s. SYN: epidermolysis bullosa lethalis.
- Hermansky-Pudlak s. a form of oculocutaneous albinism (autosomal recessive) with accumulation of ceroid in lysosomes with restrictive lung disease, granulomatous colitis, kidney failure, cardiomyopathy, and storage pool-deficient platelets. See oculocutaneous albinism.
- Herrmann s. [MIM*172500] a multisystem disorder beginning in late childhood or early adolescence, with photomyoclonus and hearing loss followed by diabetes mellitus, progressive dementia, pyelonephritis, and glomerulonephritis; progressive sensorineural hearing loss is of later onset; probably autosomal dominant inheritance with incomplete penetrance.
- Hinman s. SYN: nonneurogenic neurogenic bladder.
- holiday s. regression, development of diffuse anxiety, feelings of helplessness, irritability, and depression; said to occur in certain psychoanalytic patients before Thanksgiving and continuing into the Christmas holiday season, ending a few days after January 1.
- holiday heart s. arrhythmias of the heart, sometimes apparent after a vacation or weekend away from work, following excessive alcohol consumption; usually transient.
- Holt-Oram s. [MIM*142900] atrial septal defect in association with finger-like or absent thumb and other deformities of the forearm; autosomal dominant inheritance, caused by mutation in the T-box5 gene (TBX5) on chromosome 12q.
- Horner s. ptosis, miosis, and anhidrosis on the side of asympathetic palsy. The enophthalmos is more apparent than real. The affected pupil is visibly slow to dilate in dim light; due to a lesion of the cervical sympathetic chain or its central pathways. SYN: Bernard-Horner s., ptosis sympathetica.
- Houssay s. the amelioration of diabetes mellitus by a destructive lesion in, or surgical removal of, the pituitary gland.
- Houston-Harris s. SYN: Type IA achondrogenesis.
- Hughes-Stovin s. s. characterized by aneurysms of the large and small pulmonary arteries and thrombosis of peripheral veins and dural sinuses.
- Hunt s. [MIM*159700] 1. an intention tremor beginning in one extremity, gradually increasing in intensity, and subsequently involving other parts of the body; SYN: progressive cerebellar tremor. 2. facial paralysis, otalgia, and herpes zoster resulting from viral infection of the seventh cranial nerve and geniculate ganglion; 3. a form of juvenile paralysis agitans associated with primary atrophy of the pallidal system. SYN: paleostriatal s., pallidal s.. SYN: Ramsay Hunt s. (1).
- Hunter s. [MIM*309900] an error of mucopolysaccharide metabolism characterized by deficiency of iduronate sulfatase, with excretion of dermatan sulfate and heparan sulfate in the urine; clinically similar to Hurler s. but distinguished by less severe skeletal changes, no corneal clouding, and X-linked recessive inheritance; caused by mutation in the iduronate sulfatase gene (IDS) on chromosome Xq. SYN: type II mucopolysaccharidosis.
- Hurler s. [MIM*252800] mucopolysaccharidosis in which there is a deficiency of α-l-iduronidase, an accumulation of an abnormal intracellular material, and excretion of dermatan sulfate and heparan sulfate in the urine; with severe abnormality in development of skeletal cartilage and bone, with dwarfism, kyphosis, deformed limbs, limitation of joint motion, spadelike hand, corneal clouding, hepatosplenomegaly, mental retardation, and gargoyle-like facies; autosomal recessive inheritance, caused by mutation in the alpha-l-iduronidase gene (IDUA) on 4p. SEE ALSO: mucolipidosis. SYN: Hurler disease, lipochondrodystrophy, Pfaundler-Hurler s., type IH mucopolysaccharidosis.
- Hurler-Scheie s. a phenotypic intermediate between Hurler s. and Scheie s.; a deficiency of α-l-iduronidase. SYN: type I H/S mucopolysaccharidosis.
- Hutchison s. adrenal neuroblastoma of infants with metastasis to the orbit; at one time erroneously believed to arise predominantly from the left adrenal gland. SEE ALSO: Pepper s..
- hydralazine s. SYN: drug-induced lupus.
- 17-hydroxylase deficiency s. [MIM*202110] congenital deficiency of adrenocortical, and possibly ovarian, steroid C-17α-hydroxylase; the resulting excessive secretion of corticosterone and deoxycorticosterone produces amenorrhea, ambiguous genitalia, hypertension, and hypokalemic alkalosis; autosomal recessive inheritance caused by mutation in one of the cytochrome P450 genes (CYP17) on chromosome 10q.
- hyperabduction s. 1. diminution or loss of distal upper extremity pulses on hyperabduction of the limb; 2. one of the forerunners of thoracic outlet s., in which the subclavian or axillary artery in the brachial plexus was thought to be compressed, either in the costoclavicular space or beneath the pectoralis minor tendon, during hyperabduction of the limb. SYN: subcoracoid-pectoralis minor tendon s., Wright s..
- hypereosinophilic s. persistent peripheral eosinophilia with eosinophilic infiltration into bone marrow, heart, and other organ systems; accompanied by nocturnal sweating, coughing, anorexia and weight loss, itching and various skin lesions, and symptoms of Löffler endocarditis.
- hyper-IgM s. an X-linked immunodeficiency disorder with very low serum concentrations of IgG and IgA with a normal or a markedly elevated concentration of polyclonal IgM; affected boys develop recurrent bacterial infections in the 1st or 2nd year of life.
- hyperimmunoglobulin E s. an immunodeficiency disorder characterized by high levels of plasma IgE concentrations, a leukocyte chemotactic defect, and recurrent staphylococcal infections of the skin, upper respiratory tract, and other sites. SYN: Job s..
- hyperkinetic s. a condition marked by pathologically excessive energy seen sometimes in young children with brain injury, mental illness, and attention deficit disorder, and in epileptics; hypermotility and emotional instability are the chief characteristics; distractibility, inattention, and lack of shyness and of fear are common accompaniments.
- hyperkinetic heart s. loosely, a s. in which the heart appears to be “overworking”, i.e., beating excessively fast and/or causing subjective awareness of continual cardiac activity.
- hyperornithinemia-hyperammonemia-hypercitrullinuria s. a rare inherited disorder in which there is impaired ornithine transport into the mitochondria. SEE ALSO: lysinuric protein intolerance.
- hypersensitive xiphoid s. abnormal tenderness of the xiphoid, often associated with spontaneous pains in the chest, upper abdomen, and shoulders.
- hyperviscosity s. a s. resulting from increased viscosity of the blood; an increase in serum proteins may be associated with bleeding from mucous membranes, retinopathy, and neurological symptoms, and is sometimes seen in Waldenström macroglobulinemia and in multiple myeloma; an increased viscosity secondary to polycythemia may be associated with organ congestion and decreased capillary perfusion.
- hypometabolic s. a clinical situation suggesting hypothyroidism or myxedema, in which some tests of thyroid function may be normal and the gland is not obviously atrophic or diseased; indicative of a lack of sensitivity of peripheral tissues to thyroid hormone.
- hypoparathyroidism s. a s. characterized by fatigue, muscular weakness, paresthesia and cramps of the extremities, tetany, and laryngeal stridor; due to hypocalcemia resulting from a lack of parathyroid hormone; may be idiopathic, postoperative, or caused by organic lesions of the parathyroids.
- hypophysial s. SYN: adiposogenital dystrophy.
- hypophysiosphenoidal s. neoplastic invasion of the base of the skull in the region of the sphenoidal sinus, often with destruction of the dorsum sellae.
- hypoplastic left heart s. [MIM*241550] association of underdevelopment of the left heart chambers with atresia or stenosis of the aortic and/or mitral valve and hypoplasia of the ascending aorta.
- iliotibial band s. a s. of knee pain that may result from inflammation due to mechanical friction of the iliotibial band and the lateral femoral epicondyle.
- iliotibial band friction s. a painful condition affecting the hip, thigh, or knee; produced by irritation of the iliotibial tract as it glides over the greater trochanter, anterior superior iliac spine, Gerdy tubercle, or the lateral femoral condyle; sometimes associated with a snapping or grating sensation.
- Imerslünd-Grasbeck s. enterocyte cobalamin malabsorption.
- immotile cilia s. [MIM*242650] an inherited disorder characterized by recurrent sinopulmonary infections, reduced fertility in women, and sterility in men due to the inability of ciliated structures to beat effectively because of the absence of one or both dynein arms; autosomal recessive inheritance. Cf.:Kartagener s..
- immunodeficiency s. an immunologic deficiency or disorder, of which the chief symptom is an increased susceptibility to infection, the pattern of susceptibility being dependent upon the kind of deficiency. SEE ALSO: immunodeficiency.
- impingement s. SYN: supraspinatus s..
- s. of inappropriate secretion of antidiuretic hormone (SIADH) continued secretion of antidiuretic hormone despite low serum osmolality and expanded extracellular volume.
- indifference to pain s. congenital insensitivity to pain, possibly due to an absence of organized nerve endings in the skin.
- infertile male s. an inherited disorder of the androgen receptor protein resulting in defective androgen activity. SEE ALSO: Reifenstein s..
- inspissated bile s. persistent jaundice in newborns with hemolytic anemia, with elevations of both direct and indirect bilirubin.
- inversed jaw-winking s. when there are supranuclear lesions of the trigeminal nerve, touching the cornea may produce a brisk movement of the mandible to the opposite side.
- iridocorneal endothelial s. s. of glaucoma, iris atrophy, decreased corneal endothelium, anterior peripheral synechia, and multiple iris nodules. SYN: Cogan-Reese s., iris-nevus s..
- iridocorneal s. SYN: Chandler s..
- Irvine-Gass s. macular edema, aphakia, and vitreous humor adherent to incision for cataract extraction.
- Isaac s. a rare disorder resulting from abnormal, spontaneous muscle activity of neural origin, manifested as continuous muscle stiffness and delayed relaxation after exercise, often accompanied by pain, cramps, fasciculations, hyperhydrosis, and muscle hypertrophy (on EMG, manifests as myokymia). Isacc s. usually begins in the lower extremities but can affect abdominal, upper extremity, vocal, and respiratory muscles; it is most often sporadic, although autosomal dominant inheritance has been reported. Probably an autoimmune disease, with antibodies against the potassium channels of peripheral nerves. SYN: Isaac-Merton s..
- Isaac-Merton s. SYN: Isaac s..
- Ivemark s. [MIM*208530] SYN: polysplenia.
- Jadassohn-Lewandowski s. SYN: pachyonychia congenita.
- Jahnke s. sturge-Weber s. without glaucoma.
- jaw-winking s. [MIM*154600] an increase in the width of the palpebral fissures during chewing, sometimes with a rhythmic elevation of the upper lid when the mouth is open and ptosis when the mouth is closed. SYN: Gunn phenomenon, Gunn s., jaw-winking phenomenon, jaw-working reflex, Marcus Gunn phenomenon, Marcus Gunn s..
- Jervell and Lange-Nielsen s. [MIM*220440 and MIM*176261] a prolonged Q-T interval recorded in the electrocardiogram of certain congenitally deaf children subject to attacks of unconsciousness resulting from Adams-Stokes seizures and ventricular fibrillation; autosomal recessive inheritance, caused by homozygosity for a mutation in the potassium channel gene (KVLQT1) on chromosome 11 or minimal potassium ion channel gene (KCNE1) on 21. SYN: surdocardiac s..
- Job s. SYN: hyperimmunoglobulin E s.. [Job, biblical char.]
- Johanson-Blizzard s. a clinical s. manifested by pancreatic insufficiency, scalp defects, aplasia of the alae nasi, deafness, low birthweight, microcephaly, psychomotor delay, hypothyroidism, dwarfism, and missing permanent teeth.
- Joubert s. [MIM*213300] agenesis of the cerebellar vermis, characterized clinically by attacks of tachypnea or prolonged apnea, abnormal eye movements, ataxia, and mental retardation.
- Kartagener s. [MIM*244400] complete situs inversus associated with bronchiectasis and chronic sinusitis associated with ciliary dysmotility and impaired ciliary mucous transport in the respiratory epithelium; autosomal recessive inheritance with variable penetrance. The mechanism of the reversal of laterality remains an enigma, but it appears to be strictly an abolition (indifference) of laterality rather than a true reversal. SEE ALSO: immotile cilia s.. SYN: Kartagener triad, Zivert s..
- Kast s. SYN: Maffucci s..
- Katayama s. SYN: schistosomiasis japonica.
- Kearns-Sayre s. [MIM*165100] a form of chronic progressive external ophthalmoplegia with associated cardiac conduction defects, short stature, and hearing loss; a sporadically occurring mitochondrial myopathy presenting in childhood.
- Kennedy s. ipsilateral optic atrophy with central scotoma and contralateral choked disk or papilledema, caused by a meningioma of the ipsilateral optic nerve. SYN: Foster Kennedy s..
- Kenny-Caffey s. a disorder characterized by intermittent hypocalcemia (associated with abnormalities in parathyroid hormone secretion) and bone and eye abnormalities; autosomal dominant and autosomal recessive forms exist.
- Kimmelstiel-Wilson s. nephrotic s. and hypertension in diabetics, associated with diabetic glomerulosclerosis. SYN: Kimmelstiel-Wilson disease.
- Kleine-Levin s. [MIM*148840] a rare form of periodic hypersomnia associated with bulimia, occurring in males aged 10–25 years, characterized by periods of ravenous appetite alternating with prolonged sleep (as long as 18 hours), along with behavioral disturbances, impaired thought processes, and hallucinations; acute illness or fatigue may precede an episode, which may occur as often as several times a year.
- Klinefelter s. a chromosomal anomaly with chromosome count 47, XXY sex chromosome constitution; buccal and other cells are usually sex chromatin positive; patients are male in development but have seminiferous tubule dysgenesis, elevated plasma and urinary gonadotropins, variable gynecomastia, and eunuchoid habitus; some patients are chromosomal mosaics, with two or more cell lines of different chromosome constitution; the male tortoise-shell cat (calico cat) is an animal model. SYN: XXY s..
- Klippel-Feil s. [MIM*148900] a congenital defect manifested as a short neck, fusion of cervical vertebrae, and abnormalities of the brainstem and cerebellum; autosomal dominant inheritance, with most cases sporadic. SYN: cervical fusion s..
- Klippel-Trenaunay-Weber s. [MIM*149000] an anomaly of the extremity in which there is a combination of angiomatosis and anomalous development of the underlying bone and muscle, sometimes associated with localized gigantism; probably autosomal dominant inheritance, with most cases sporadic. SYN: angioosteohypertrophy s., congenital dysplastic angiectasia, hemangiectatic hypertrophy.
- Klüver-Bucy s. a s. characterized by psychic blindness or hyperreactivity to visual stimuli, increased oral and sexual activity, and depressed drive and emotional reactions; reported in monkeys after bilateral temporal lobe ablation, but rarely reported in humans.
- Kniest s. [MIM*156550 and MIM*120140] a chondrodysplasia characterized by round flat facies, enlargement and stiffness of joints, joint contractures, scoliosis, myopia with retinal detachment, cleft palate, deafness, and characteristic radiographic findings of metaphyseal flaring of long bones, flattening, and coronal clefting of vertebrae; autosomal dominant inheritance, caused by mutation in the type II collagen gene (COL2A1) on chromosome 12q.
- Kobberling-Dunnigan s. SYN: familial partial lipodystrophy.
- Kocher-Debré-Sémélaigne s. autosomal recessive inherited athyrotic cretinism associated with muscular pseudohypertrophy. SYN: Debré-Sémélaigne s..
- Koenig s. alternating attacks of constipation and diarrhea, with colic, meteorism, and gurgling in the right iliac fossa, said to be symptomatic of cecal tuberculosis.
- Koerber-Salus-Elschnig s. SYN: convergence-retraction nystagmus.
- Kohlmeier-Degos s. vascular occlusive disorder predominantly involving the small arteries of the skin and bowel with about one-fifth of patients having central nervous system symptoms secondary to arterial fibrosis and thrombosis.
- Korsakoff s. an alcohol amnestic s. characterized by confusion and severe impairment of memory, especially for recent events, for which the patient compensates by confabulation; typically encountered in chronic alcoholics; delirium tremens may precede the s., and Wernicke s. often coexists; the precise pathogenesis is uncertain, but direct toxic effects of alcohol are probably less important than severe nutritional deficiencies often associated with chronic alcoholism. SYN: amnestic s. (1), dysmnesic s., Korsakoff psychosis.
- Kostmann s. severe infantile agranulocytosis, an inherited disorder of infancy characterized by severe, recurrent infections and neutropenia.
- Kuskokwim s. congenital joint contractures resembling arthrogryposis, found in Inuits of the Kuskokwim River delta in Alaska.
- Laband s. [MIM*135500 and 135300] fibromatosis of the gingivae associated with hypoplasia of the distal phalanges, nail dysplasia, joint hypermotility, and sometimes hepatosplenomegaly; autosomal dominant inheritance.
- Lady Windemere's s. nontuberculous mycobacterial pulmonary disease in a frail, elderly woman, often with pectus excavatum or scoliosis. [named for the main character in Oscar Wilde's play, Lady Windemere's Fan]
- LAMB s. [MIM*160980] the concurrence of lentigines, atrial myxoma, mucocutaneous myxomas, and blue nevi. SEE ALSO: NAME s..
- Lambert-Eaton s. (LES) a generalized disorder of neuromuscular transmission caused by a defect in the release of acetylcholine quanta from the presynaptic nerve terminals; often associated with small cell carcinoma of the lung, particularly in elderly men with a long history of cigarette smoking. In contrast to myasthenia gravis, weakness tends to affect solely axial muscles, girdle muscles, and less often the limb muscles; autonomic disturbances, e.g., dry mouth and impotence, are common; the deep tendon reflexes are unelicitable; on motor conduction studies, responses on initial stimulation are quite low in amplitude, but they show marked post-tetanic facilitation after a few seconds of exercise. Lambert-Eaton s. is due to loss of voltage-sensitive calcium channels located on the presynaptic motor nerve terminal. See myasthenic s.. SYN: carcinomatous myopathy, Eaton-Lambert s., Lambert s., myasthenic s..
- Landau-Kleffner s. childhood disorder characterized by generalized and psychomotor seizures associated with acquired aphasia; multifocal spikes and spike and wave discharges in the electroencephalogram. SYN: acquired epileptic aphasia.
- Langer-Saldino s. SYN: Type II achondrogenesis.
- Larsen s. a s. characterized by multiple congenital dislocations with osseous anomalies, including characteristic flattened facies and cleft soft palate.
- Lasègue s. in conversion hysteria, inability to move an anesthetic limb, except under control of the sight.
- late dumping s. s. in patients who have had ablation of the pyloric sphincter mechanism; associated with flushing, sweating, dizziness, weakness, and vasomotor collapse 2–3 hours after a meal and caused by hypoglycemia resulting from the rapid absorption of a large carbohydrate load, which then stimulates insulin release. SEE ALSO: dumping s..
- Launois-Bensaude s. SYN: multiple symmetric lipomatosis.
- Launois-Cléret s. SYN: adiposogenital dystrophy.
- Laurence-Moon s. [MIM*245800] disorder characterized by mental retardation, pigmentary retinopathy, hypogenitalism, and spastic paraplegia; autosomal recessive inheritance. This s. is to be distinguished from Bardet-Biedl [MIM*209900]: in the past, the two syndromes have been lumped together under the designation of Laurence-Moon-Bardet-Biedl s..
- Lawrence-Seip s. SYN: lipoatrophy.
- Lejeune s. SYN: cri-du-chat s..
- Lenègre s. isolated damage of the cardiac conduction system as a result of a sclerodegenerative lesion; characterized ordinarily as idiopathic fibrosis of the atrioventricular nodal, His bundle, or bundle branches with corresponding conduction block(s). SYN: Lenègre disease.
- Lennox-Gastaut s. a generalized myoclonic astatic epilepsy in children, with mental retardation, resulting from various cerebral afflictions such as perinatal hypoxia, cerebral hemorrhage, encephalitides, maldevelopment or metabolic disorders of the brain; characterized by multiple seizure types (generalized tonic, atonic, myoclonic, tonic-clonic, and atypical absence) and background slowing and slow spike and wave pattern on EEG. SYN: Lennox s..
- LEOPARD s. s. consisting of lentigines (multiple), electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and deafness (sensorineural). An autosomal dominant hereditary disorder. SYN: multiple lentigines s..
- Leri-Weill s. SYN: dyschondrosteosis.
- Lermoyez s. increasing hearing loss and tinnitus preceding an attack of vertigo, after which the hearing improves. Variant of Ménière disease.
- Lesch-Nyhan s. [MIM*308000 several kinds] a disorder of purine metabolism due to deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT); characterized by hyperuricemia, uric acid renal stones, mental retardation, spasticity, choreoathetosis, and self-mutilation of fingers and lips by biting; X-linked inheritance, caused by mutation in the HPRT gene on Xq.
- Lev s. bundle branch block in a patient with normal myocardium and normal coronary arteries resulting from fibrosis or calcification including the conducting system; affects the membranous septum, the apex of the muscular septum, and often the mitral and aortic valve rings. SYN: Lev disease.
- Libman-Sacks s. SYN: Libman-Sacks endocarditis.
- Li-Fraumeni cancer s. [MIM*151623 and 191170] familial breast cancer in young women, with soft-tissue sarcomas in children, brain tumors and other cancers in close relatives; autosomal dominant inheritance, caused by mutation in the P53 gene on chromosome 17p.
- liver kidney s. severe loss of both liver and kidney function, seen in a variety of diseases, often with fatal outcome. Seen particularly in late-stage liver failure due to cirrhosis or hepatitis, and in several viral infections.
- locked-in s. basis pontis infarct resulting in tetraplegia, horizontal ophthalmoplegia, dysphagia, and facial diplegia with preserved consciousness; caused by basilar artery occlusion. SYN: pseudocoma.
- loculation s. SYN: Froin s..
- Loeffler s. I eosinophilic pulmonary infiltrates, often associated with parasitic migration; also associated with reactions to some antibiotics, to L-tryptophan, or to crack cocaine. SYN: eosinophilic pneumonia.
- Loeffler s. II eosinophilic endocarditis/myocarditis.
- long QT syndromes a group of congenital and acquired diseases in which the electrocardiographic QT interval is longer than established measurements for age and sex; the presence of long QT intervals presages arrhythmias and sudden death. SEE ALSO: QT interval.
- Lorain-Lévi s. SYN: pituitary dwarfism.
- Louis-Bar s. SYN: ataxia telangiectasia.
- Lowe s. SYN: oculocerebrorenal s..
- Lowe-Terrey-MacLachlan s. SYN: oculocerebrorenal s..
- Lown-Ganong-Levine s. electrocardiographic s. of a short PR interval with normal duration of the QRS complex; it lacks the slurred delta wave of the Wolff-Parkinson-White s., but resembles it in its frequent (controversial) association with paroxysmal tachycardia which qualifies it as a s.; otherwise short PR may occur in otherwise normal individuals.
- low salt s., low sodium s. a s. resulting from salt restriction and use of diuretics in treatment of congestive heart failure and hypertension, characterized by weakness, drowsiness, muscle cramps, and a reduction in glomerular filtration with consequent nitrogen retention, renal failure, and sometimes death; occurs also in cirrhosis of the liver with ascites and in adrenal insufficiency. SYN: salt depletion s..
- lupus-like s. a clinical s. resembling that of systemic lupus erythematosus, but due to some other cause.
- Lutembacher s. a congenital cardiac abnormality consisting of a defect of the interatrial septum, mitral stenosis, and enlarged right atrium.
- lymphoproliferative s. SYN: Duncan disease.
- Lynch s. type I, familial colorectal cancer, generally occurring at an early age; type II, familial colorectal cancer occurring at an early age in conjunction with female genital cancer or cancers at other sites proximal to the bowel.
- Mad Hatter s. gastrointestinal and central nervous system manifestations of chronic mercury poisoning, including stomatitis, diarrhea, ataxia, tremor, hyperreflexia, sensorineural impairment, and emotional instability; previously seen in workers in felt hat manufacturing who put mercury-containing material in their mouths to make it more pliable. [fr. char. in Alice in Wonderland]
- Maffucci s. [MIM*166000] enchondromas of the limbs in association with venous and lymphaticovenous malformation; propensity to develop other benign or malignant tumors. SYN: dyschondroplasia with hemangiomas, Kast s..
- malabsorption s. a state characterized by diverse features such as diarrhea, weakness, edema, lassitude, weight loss, poor appetite, protuberant abdomen, pallor, bleeding tendencies, paresthesias, muscle cramps, and steatorrhea; caused by any of several conditions in which there is ineffective absorption of nutrients, e.g., sprue, gluten-induced enteropathy, gastroileostomy, tuberculosis, and certain fistulas.
- malignant mole s. [MIM*155600] irregularly shaped, variously colored, distinctively melanocytic, 5–10-mm nevi occurring in large numbers (to over 100) primarily on the trunk and extremities, with a high risk of malignancy; probably autosomal dominant inheritance. SEE ALSO: dysplastic nevus.
- Mallory-Weiss s. upper gastrointestinal hemorrhage resulting from a laceration in the mucosa at the gastroesophageal junction usually induced by retching or vomiting. SYN: Mallory-Weiss lesion, Mallory-Weiss tear.
- mandibulofacial dysotosis s. SYN: mandibulofacial dysostosis.
- mandibulo-oculofacial s. SYN: dyscephalia mandibulo-oculofacialis.
- Marcus Gunn s. SYN: jaw-winking s..
- Marfan s. [MIM*154700] a connective tissue multisystemic disorder characterized by skeletal changes (arachnodactyly, long limbs, joint laxity, pectus), cardiovascular defects (aortic aneurysm which may dissect, mitral valve prolapse), and ectopia lentis; autosomal dominant inheritance, caused by mutation in the fibrillin-1 gene (FBN1) on chromosome 15q. SYN: Marfan disease.
- Marinesco-Garland s. [MIM*248800] a rare neurologic disorder characterized by cerebellar ataxia, congenital cataracts, and growth and mental retardation; autosomal recessive inheritance. SYN: cataract-oligophrenia s., Marinesco-Sjögren s., Torsten Sjögren s..
- Marinesco-Sjögren s. SYN: Marinesco-Garland s..
- marker X s. SYN: fragile X s..
- Maroteaux-Lamy s. [MIM*253200] an error of mucopolysaccharide metabolism characterized by excretion of dermatan sulfate in the urine, growth retardation, lumbar kyphosis, sternal protrusion, genu valgum, usually hepatosplenomegaly, and no mental retardation; onset occurs after 2 years of age; autosomal recessive inheritance, caused by mutation in the arylsulfatase B gene (ARSB) on chromosome 5q. SYN: arylsulfatase B deficiency, type VI mucopolysaccharidosis.
- Marshall s. [MIM*154780] s. of midface hypoplasia, cataract, sensorineural hearing loss, and hypohidrosis. It is disputed whether this s. is distinct from Stickler s..
- Martin-Bell s. SYN: fragile X s..
- opiate intoxication s. the triad of miosis with depressed consciousness and respiratory rate; the s. is often named for the specific opiate responsible, e.g., heroin intoxication s.. SYN: heroin overdose s..
- systemic capillary leak s. a rare disorder of unknown cause presenting with episodic hypotension, hemoconcentration, and hypoalbuminemia; monoclonal gammopathy is often associated.
- MASS s. a s. closely resembling both Marfan s. and Barlow s.. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable. At present it has been assigned no separate MIM number, but shares that of the Barlow s. [MIM*157700]. [mitral valve prolapse, aortic anomalies, skeletal changes, and skin changes.]
- massive bowel resection s. malabsorption following extensive resection of the bowel, particularly the small intestine, characterized by diarrhea, steatorrhea, hypoproteinemia, and malnutrition.
- maternal deprivation s. a failure to thrive seen in infants and young children and exhibited as a constellation of physical signs, symptoms, and behaviors, usually associated with maternal loss, absence or neglect, and characterized by lack of responsiveness to the environment and often depression.
- Mauriac s. dwarfism with obesity and hepatosplenomegaly in children with poorly controlled diabetes mellitus.
- Mayer-Rokitansky-Küster-Hauser s. primary amenorrhea due to müllerian duct agenesis, resulting in absence of the vagina, or presence of a short vaginal pouch, and absence of the uterus with normal karyotype and ovaries. SYN: müllerian agenesis, Rokitansky-Küster-Hauser s..
- May-White s. progressive myoclonus epilepsy with lipomas, deafness, and ataxia; probably a familial form of mitochondrial encephalomyopathy.
- McCune-Albright s. polyostotic fibrous dysplasia with irregular brown patches of cutaneous pigmentation and endocrine dysfunction, especially precocious puberty in girls. SEE ALSO: pseudohypoparathyroidism. SYN: Albright disease, Albright s. (1).
- Meckel s. SYN: dysencephalia splanchnocystica.
- Meckel-Gruber s. SYN: dysencephalia splanchnocystica.
- meconium blockage s. low intestinal obstruction in newborn infants resulting from blockage of meconium.
- megacystic s. a combination of a large, smooth, thin-walled bladder, vesicoureteral reflux, and dilated ureters.
- megacystitis-megaureter s. radiologic findings of a large capacity, thin-walled bladder and massive vesicoureteral reflux, without obstruction or underlying neuropathy or dysfunctional voiding.
- megacystitis-microcolon-intestinal hypoperistalsis s. a rare condition characterized by abdominal distention, lax abdominal musculature, incomplete intestinal rotation, and deficient intestinal peristalsis. A large bladder and often vesicoureteral reflux are seen. Typically affects female neonates and usually fatal in first year of life.
- Meischer s. SYN: cheilitis granulomatosa.
- Melkersson-Rosenthal s. [MIM*155900] cheilitis granulomatosa, fissured tongue, and recurrent facial nerve paralysis.
- Melnick-Needles s. SYN: osteodysplasty.
- Ménétrier s. SYN: Ménétrier disease.
- Ménière s. SYN: Ménière disease.
- menopausal s. recurring symptoms experienced by some women during the climacteric period; they include hot flashes, chills, headache, irritability, and depression. SYN: climacteric s..
- Meretoja s. a familial form of systemic amyloidosis with lattice, corneal dystrophy, cranial and peripheral nerve palsies, protruding lips, masklike facies, and floppy ears.
- methionine malabsorption s. an inherited disorder in which there is an inability to absorb l-methionine from the gut.
- Meyer-Betz s. SYN: myoglobinuria.
- middle lobe s. atelectasis with chronic pneumonitis of the middle lobe of the (right) lung, due to compression of the middle lobe bronchus, usually by enlarged lymph node s, which may be tuberculous; chief symptoms are chronic cough, wheezing, recurrent respiratory infections, hemoptysis, chest pain, malaise, easy fatigability, and loss of weight; sometimes confused with interlobar accumulation of fluid in the lateral x-ray view. SYN: Brock s..
- Mikulicz s. the symptoms characteristic of Mikulicz disease occurring as a complication of some other disease, such as lymphoma, leukemia, or uveoparotid fever.
- milk-alkali s. a chronic disorder characterized by pathologic deposition of calcium in many sites, especially in the kidneys, reversible in its early stages, induced by ingestion of large amounts of calcium and alkali, which were formerly used in the therapy of peptic ulcer; can progress to renal failure. SYN: Burnett s..
- Milkman s. osteomalacia with multiple pseudofractures, usually bilateral and symmetrical, may develop true pathologic fractures.
- minimal-change nephrotic s. nephrotic s. with minimal glomerular changes by light or electron microscopy, occurring most frequently in children, marked by edema, albuminuria, and an increase in cholesterol in the blood, but otherwise with fairly good renal function; tubular epithelium is vacuolated by cholesterol droplets, but the glomeruli show only that the foot processes of the glomerular epithelial cells are fused, probably secondary to the proteinuria; the cause of the increased glomerular permeability to plasma protein is unknown.
- Mirizzi s. benign obstruction of the hepatic ducts due to spasm and/or fibrous scarring of surrounding connective tissue; often associated with a stone in the cystic duct and chronic cholecystitis.
- mitral valve prolapse s. the clinical constellation of findings with or without symptoms due to prolapse of the mitral valve : a nonejection systolic click accentuated in the standing posture, sometimes multiple, sometimes with mitral regurgitation occurring relatively late in systole, and accompanied by echocardiographic evidence of the mitral valve prolapse, usually with thickened leaflets of the valve. Symptoms are nonspecific and may include vague chest pains and dyspnea on exertion. SYN: billowing mitral valve s..
- Möbius s. [MIM*157900] a developmental bilateral facial paralysis usually associated with oculomotor or other neurological disorders. SYN: congenital facial diplegia.
- Monakow s. contralateral hemiplegia, hemianesthesia, and homonomous hemianopsia due to occlusion of the anterior choroidal artery.
- monofixation s. a small-angle strabismus (fewer than 10 prism diopters) with central fixation by the preferred eye, central suppression of the deviating eye, and binocular fusion of peripheral vision
- Morgagni s. [MIM*144800] hyperostosis frontalis interna in elderly women, with obesity and neuropsychiatric disorders of uncertain cause; at least sometimes familial. SYN: metabolic craniopathy, Stewart-Morel s..
- morning glory s. [MIM*120330] a funnel-shaped hypoplastic optic nerve with a dot of white tissue at its center; surrounded by an elevated anulus of chorioretinal pigment.
- Morquio s. [MIM*253000, MIM*253010, MIM*230500] an error of mucopolysaccharide metabolism with excretion of keratan sulfate in urine; characterized by severe skeletal defects with short stature, severe deformity of spine and thorax, long bones with irregular epiphyses but with shafts of normal length, enlarged joints, flaccid ligaments, and waddling gait; autosomal recessive inheritance; type IVA mucopolysaccharidosis is due to an absence of galactose-1-sulfatase and is caused by mutation in the N-acetylgalactosamine-6-sulfate sulfatase gene (GALNS) on 16q, while type IVB is due to a deficiency of a β-galactosidase, and is caused by mutation in β-galactosidase gene (GLB1) on 3p. SYN: Brailsford-Morquio disease, Morquio disease, Morquio-Ullrich disease, type IVA, B mucopolysaccharidosis.
- Mounier-Kuhn s. SYN: tracheobronchomegaly.
- Muckle-Wells s. [MIM*191900] a s. characterized by amyloidosis, notably involving the kidneys, progressive sensorineural hearing loss, and periods of febrile urticaria associated with pain in joints and muscles of the extremities; autosomal dominant inheritance.
- multiple endocrine deficiency s. acquired deficiency of the function of several endocrine glands, usually on an autoimmune basis, as in Schmidt s. (2). SYN: multiple glandular deficiency s., polyendocrine deficiency s., polyglandular deficiency s..
- multiple endocrine neoplasia s., type 1 an autosomal-dominant predisposition to tumors of parathyroid glands, anterior pituitary, endocrine pancreas, and less commonly, other organs. SYN: multiple endocrine neoplasia, type 1, Wermer s..
- multiple endocrine neoplasia s., type 2A an autosomal-dominant predisposition to tumors of thyroid C cells (medullary carcinoma), adrenal medulla (pheochromocytoma), and nodular hyperplasia of parathyroid glands. SYN: multiple endocrine neoplasia, type 2A.
- multiple endocrine neoplasia s., type 2B an autosomal-dominant predisposition to tumors of thyroid C cells (medullary carcinoma), adrenal medulla (pheochromocytoma), peripheral nerves (mucosal neurinoma), and intestinal ganglioneuromatosis; associated with a tall, thin habitus.
- multiple mucosal neuroma s. multiple submucosal neuromas or neurofibromas of the tongue, lips, and eyelids in young persons; sometimes associated with tumors of the thyroid or adrenal medulla, or with subcutaneous neurofibromatosis.
- Munchausen s. repeated fabrication of clinically convincing simulations of disease for the purpose of gaining medical attention; a term referring to patients who wander from hospital to hospital feigning acute medical or surgical illness and giving false and fanciful information about their medical and social background for no apparent reason other than to gain attention. See factitious disorder.
- Munchausen s. by proxy a form of child maltreatment or abuse inflicted by a caretaker (usually the mother) with fabrications of symptoms and/or induction of signs of disease, leading to unnecessary investigations and interventions, with occasional serious health consequences, including death of the child. SYN: factitious illness by proxy.
- Münchhausen s. See Munchausen s..
- myelodysplastic s. SYN: preleukemia.
- myeloproliferative syndromes a group of conditions that result from a disorder in the rate of formation of cells of the bone marrow, including chronic granulocytic leukemia, erythremia, myelosclerosis, panmyelosis, and erythremic myelosis and erythroleukemia.
- myofascial s. irritation of the muscles and fascia of the back and neck causing acute and chronic pain not associated with any neurologic or bony evidence of disease; presumed to arise primarily from poorly understood changes in the muscle and fascia themselves.
- myofascial pain-dysfunction s. dysfunction of the masticatory apparatus related to spasm of the muscles of mastication precipitated by occlusal dysharmony or alteration in vertical dimension of the jaws, and exacerbated by emotional stress; characterized by pain in the preauricular region, muscle tenderness, popping noise in the temporomandibular joint, and limitation of jaw motion. SYN: temporomandibular joint pain-dysfunction s..
- Naegeli s. [MIM*161000] reticular skin pigmentation, diminished sweating, hypodontia, hyperkeratosis of the palms and soles, and blistering; may be confused with incontinentia pigmenti but is as common in males as in females; autosomal dominant inheritance. SYN: Franceschetti-Jadassohn s..
- Naffziger s. scalenus-anticus s..
- nail-patella s. [MIM*161200] a skeletal disorder characterized by absence or hypoplasia of the patella, iliac horns, dysplasia of the fingernails and toenails, and thickening of the glomerular lamina densa; the lower ends of the femur have a shape very similar to Erlenmeyer flask deformity; autosomal dominant inheritance, caused by mutation in the gene encoding LIM-homeodomain protein (LMX1B) onchromosome 9q.
- Nance-Insley s. SYN: chondrodystrophy with sensorineural deafness.
- Nelson s. a s. of hyperpigmentation, third nerve damage, and enlarging sella turcica caused by pituitary adenomas presumably present before adrenalectomy for Cushing s. but enlarging and symptomatic afterward. SYN: postadrenalectomy s..
- nephritic s. the clinical symptoms of acute glomerulonephritis, particularly hematuria, hypertension, and renal failure.
- nephrotic s. a clinical state characterized by edema, albuminuria, decreased plasma albumin, doubly refractile bodies in the urine, and usually increased blood cholesterol; lipid droplets may be present in the cells of the renal tubules, but the basic lesion is increased permeability of the glomerular capillary basement membranes, of unknown cause or resulting from glomerulonephritis, diabetic glomerulosclerosis, systemic lupus erythematosus, amyloidosis, renal vein thrombosis, or hypersensitivity to various toxic agents. SYN: nephrosis (3).
- Netherton s. [MIM*256500] congenital ichthyosiform erythroderma or ichthyosis linearis circumscripta associated with bamboo hair, atopy, urticaria, intermittent aminoaciduria, and mental retardation; probably an autosomal recessive trait that frequently resolves or improves in adolescence.
- neural crest s. s. consisting of loss of pain sensibility, autonomic dysfunction, pupillary abnormalities, neurogenic anhidrosis, vasomotor instability, aplasia of dental enamel, meningeal thickening, hyperflexion, and a degree of albinism; may reflect developmental abnormalities of the neural crest.
- neurocutaneous s. the occurrence of nevi and sometimes various skeletal deformities with symptoms pointing to gliosis or abiotrophy of the central nervous system.
- neuroleptic malignant s. hyperthermia with extrapyramidal and autonomic disturbances which may result in death, following the use of neuroleptic agents.
- Noonan s. [MIM*163950, MIM*163955] a s. found in both males and females, with a phenotype reminiscent of Turner s.; characterized by hypertelorism, downslanting of palpebral fissures, webbing of the neck, short stature, and congenital heart disease, especially pulmonary stenosis; normal chromosomal karyotype; autosomal dominant inheritance.
- Nothnagel s. dizziness, staggering, and rolling gait, with irregular forms of oculomotor paralysis and often nystagmus, seen in cases of tumor of the midbrain.
- numb chin s. paresthesia and sensory loss affecting one side of the chin and lower lip, resulting from neoplastic infiltration of the ipsilateral mental nerve; common causes include multiple myeloma and breast or prostate carcinoma.
- nystagmus blockage s. strabismus with eyes and head in a position to minimize associated nystagmus.
- OAV s. SYN: oculoauriculovertebral dysplasia.
- occipital horn s. an X-linked recessive disorder in which there is defective biliary excretion of copper, resulting in a deficiency of lysyl oxidase causing skin and joint laxity.
- ocular-mucous membrane s. Stevens-Johnson s. with associated ocular lesions (conjunctivitis, panophthalmitis, iritis), oral lesions (bullae, erosions, superficial ulcers), and genital lesions (urethritis, balanitis circinata, blebs).
- oculobuccogenital s. SYN: Behçet s..
- oculocerebrorenal s. [MIM*309000] a congenital s. with hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced ammonia production by the kidney, and vitamin D–resistant rickets; X-linked recessive inheritance, caused by mutation in the oculocerebrorenal gene (OCRL) on Xq. SYN: Lowe s., Lowe-Terrey-MacLachlan s..
- oculocutaneous s. SYN: Vogt-Koyanagi s..
- oculomandibulofacial s. SYN: dyscephalia mandibulo-oculofacialis.
- oculopharyngeal s. [MIM*164300] a myopathic disorder with a slowly progressive blepharoptosis and dysphagia, beginning late in life; autosomal dominant inheritance, caused by mutation in the gene encoding poly(A)-binding protein-2 (PABP2) on chromosome 14q.
- oculovertebral s. SYN: oculovertebral dysplasia.
- oculovestibulo-auditory s. a nonsyphilitic interstitial keratitis characterized by an abrupt onset with vertigo and tinnitus followed by hearing impairment; about 50% of patients have an associated systemic disease, most commonly polyarteritis nodosa. SYN: Cogan s..
- OFD s. SYN: orofaciodigital s..
- Ogilvie s. pseudoobstruction, predominantly of the colon, believed to be the result of motility disturbance; without physical obstruction.
- Olmsted s. congenital palmar, plantar, and periorificial keratoderma leading to flexion contractures and digital spontaneous amputation.
- Omenn s. [MIM*603554] a rapidly fatal immunodeficiency disease characterized by erythroderma, diarrhea, repeated infections, hepatosplenomegaly, and leukocytosis with eosinophilia; autosomal recessive inheritance, caused by mutation in either the recombination activating gene 1 (RAG1) or the adjacent RAG2 gene on chromosome 11p.
- Oppenheim s. SYN: amyotonia congenita.
- organic brain s. (OBS) a constellation of behavioral or psychological signs and symptoms including problems with attention, concentration, memory, confusion, anxiety, and depression caused by transient or permanent dysfunction of the brain. SYN: acute organic brain s..
- organic mood s. s. attributed to an organic factor characterized by either depressive or manic mood. See bipolar disorder. SEE ALSO: bipolar disorder.
- orofaciodigital s. an inherited s., lethal in males, with varying combinations of defects of the oral cavity, face, and hands, including lobulated or bifid tongue, cleft or pseudocleft palate, tongue tumors, missing or malpositioned teeth, hypoplastic nasal alar cartilage, depressed nasal bridge, brachydactyly, clinodactyly, incomplete syndactyly, and, frequently, mental retardation; autosomal recessive [MIM 252100 and MIM 258850] or X-linked [MIM 311200] inheritance. SYN: OFD s., orodigitofacial dysostosis, Papillon-Léage and Psaume s..
- osteomyelofibrotic s. SYN: myelofibrosis.
- Othello s. a delusional belief in the infidelity of one's spouse. [Othello, Shakespearean character]
- otomandibular s. SYN: otomandibular dysostosis.
- otopalatodigital s. [MIM*311300] conductive hearing impairment, cleft palate, broad nasal root, and frontal bossing, wide spacing of toes, broad thumbs and great toes, and often other signs of generalized bone dysplasia; X-linked recessive inheritance.
- ovarian vein s. a condition characterized by intermittent abdominal pain due to ureteral compression by the right ovarian vein, occurring with most frequency on the right side, and thought to be due to aberrant crossing of the right ovarian vein over the ureter, generally at the level of the first sacral vertebra; dilation of the ovarian vein during pregnancy and unilateral ptosis of the kidney are thought to be contributing factors leading to intermittent ureteral obstruction and recurring bouts of pain and pyelonephritis.
- pacemaker s. the occurrence of symptoms relating to the loss of atrial-ventricular synchrony in ventricularly paced patients, or symptoms caused by inadequate timing of atrial and ventricular contractions in paced patients.
- Paget-von Schrötter s. stress thrombosis or spontaneous thrombosis of the subclavian or axillary vein; a thoracic outlet s.. SYN: effort-induced thrombosis.
- painful arc s. SYN: supraspinatus s..
- painful-bruising s. an intense inflammatory reaction to slight extravasation of blood, due to an allergic sensitivity to red blood cells; more commonly seen in adult women.
- paleostriatal s. SYN: Hunt s. (3).
- Pancoast s. lower trunk brachial plexopathy and Horner s. due to malignant tumor in the region of the superior pulmonary sulcus.
- pancreatorenal s. acute renal failure occurring in a patient with severe acute pancreatitis; the mortality rate is high.
- Papillon-Léage and Psaume s. SYN: orofaciodigital s..
- Papillon-Lefèvre s. [MIM*245000] a congenital hyperkeratosis of the palms and soles, with progessive destruction of alveolar bone about the deciduous and permanent teeth beginning as early as 2 years of age, and also with premature exfoliation of teeth and calcification of the falx cerebri; autosomal recessive inheritance.
- paraneoplastic s. a s. directly resulting from a malignant neoplasm, but not resulting from the presence of tumor cells in the affected parts.
- Parenti-Fraccaro s. SYN: Type IB achondrogenesis.
- Parinaud s. paralysis of conjugate upward gaze with a lesion at the level of the superior colliculi; Bell phenomenon is present. SYN: dorsal midbrain s., Parinaud ophthalmoplegia.
- Parinaud oculoglandular s. unilateral conjunctival granuloma with preauricular adenopathy in tularemia, chancre, tuberculosis, and cat-scratch disease.
- Parkes Weber s. concurrence of multiple congenital arteriovenous fistulae or arteriovenous malformations with capillary stain and lymphaticovenous anomalies in an enlarged limb.
- patellofemoral s. anterior knee pain due to a structural or functional disturbance in the relation between the patella and distal femur.
- patellofemoral stress s. SYN: runner's knee.
- pathologic startle syndromes a group of disorders characterized by markedly exaggerated startle reflex and other exaggerated stimulus-induced responses. Includes hyperexplexia and probably latah and the jumping Frenchman of Maine s..
- Pellizzi s. SYN: macrogenitosomia praecox.
- Pendred s. [MIM*274600] characterized by congenital sensorineural hearing impairment with goiter (usually small) due to defective organic binding of iodine in the thyroid; afflicted individuals are usually euthyroid; autosomal recessive inheritance, caused by mutation in the Pendred s. gene (PDS) encoding pendrin on chromosome 7q.
- Pepper s. obsolete eponym for neuroblastoma of the adrenal gland with metastases in the liver; formerly believed to occur more frequently when the primary tumor was in the right adrenal, whereas tumors of the left adrenal tended to metastasize to the skull (Hutchison s.).
- pericolic membrane s. a symptom complex simulating chronic appendicitis, caused by congenital constricting pericolic membranes.
- Persian Gulf s. SYN: Gulf War s..
- persistent müllerian duct s. familial disorder with presence of fallopian tube, uterus, and testis in a male. Deficient müllerian inhibitory substance secondary to Sertoli cell defect. SYN: hernia uteri inguinale.
- pertussis-like s. a s. characterized by severe episodes of coughing resembling whooping cough (pertussis).
- petrosphenoidal s. neoplastic infiltration of the apex of the petrous bone and the anterior part of the foramen lacerum.
- Peutz-Jeghers s. [MIM*175200] generalized hamartomatous multiple polyposis of the intestinal tract, consistently involving the jejunum, associated with melanin spots of the lips, buccal mucosa, and fingers; autosomal dominant inheritance, caused by mutation in the serine/threonine kinase gene (STK11) on chromosome 19p. SYN: Jeghers-Peutz s., Peutz s..
- Pfeiffer s. [MIM*101600] disorder characterized by broad, short thumbs and great toes, often with duplication of the great toes, and variable syndactyly of the digits; craniosynostosis is a variable feature. Autosomal dominant inheritance, caused by mutation in the fibroblast growth factor receptor 1 gene (FGFR1) on chromosome 8p or FGFR2 gene on 10q. SYN: Noack s., type V acrocephalosyndactyly.
- phospholipid s. the combination of antiphospholipid antibodies and the presence of either arterial or venous occlusive events such as thrombosis.
- Picchini s. a form of polyserositis involving the three great serosae in contact with the diaphragm, sometimes also the meninges, tunica vaginalis testis, synovial sheaths, and bursae, caused by the presence of a trypanosome.
- pickwickian s. a combination of severe, grotesque obesity, somnolence, and general debility, theoretically resulting from hypoventilation induced by the obesity; hypercapnia, pulmonary hypertension, and cor pulmonale can result. [after the “fat boy” in Dickens ' Pickwick Papers]
- Pierre Robin s. [MIM*261800] micrognathia and U-shaped cleft palate, glossoptosis, often associated with upper airway obstruction and feeding difficulties; weak evidence of autosomal recessive inheritance. SYN: Robin s..
- pigment dispersion s. increased resistance to flow of aqueous humor through the pupil from the anterior chamber to the posterior chamber, leading to posterior bowing of the peripheral iris against the zonules; a possible mechanism for pigmentary glaucoma.
- Pins s. dullness, diminution of vocal fremitus and of the vesicular murmur, and a slight distant blowing sound, heard in the posteroinferior region of the chest on the left side, in cases of pericardial effusion; there is sometimes also a fine rale in this region, but all the adventitious auscultatory signs disappear when the patient assumes the genupectoral position.
- placental dysfunction s. fetal malnutrition and hypoxia resulting from impaired transfer of oxygen and various nutritive materials from mother to fetus.
- placental transfusion s. in utero transfusion of blood from one twin to the other such that the donor becomes anemic and growth retarded and the recipient becomes polycythemic and develops hydrops. SEE ALSO: twin-twin transfusion.
- Plummer-Vinson s. iron deficiency anemia, dysphagia, esophageal stenosis, and atrophic glossitis. SYN: Paterson-Kelly s., sideropenic dysphagia.
- POEMS s. a condition characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes.
- Poland s. an anomaly consisting of absence of the pectoralis major and minor muscles, ipsilateral breast hypoplasia, and absence of two to four rib segments.
- polycystic ovary s. [MIM*184700] a condition commonly characterized by hirsutism, obesity, menstrual abnormalities, infertility, and enlarged ovaries; thought to reflect excessive androgen secretion of ovarian origin. SYN: sclerocystic disease of the ovary, Stein-Leventhal s..
- polysplenia s. SYN: bilateral left-sidedness.
- popliteal entrapment s. a crush s. resulting from compression of the popliteal artery and impairment of its blood flow by structures of the popliteal space.
- postadrenalectomy s. SYN: Nelson s..
- postcardiotomy s. SYN: postpericardiotomy s..
- postcholecystectomy s. the recurrence or persistence of signs and symptoms that led to removal of the gallbladder, but after cholecystectomy.
- postcommissurotomy s. SYN: postpericardiotomy s..
- postconcussion s. posttraumatic s..
- posterior inferior cerebellar artery s. a s. due usually to thrombosis, characterized by dysarthria, dysphagia, staggering gait, and vertigo, and marked by hypotonia, incoordination of voluntary movement, nystagmus, Horner s. on the ipsilateral side, and loss of pain and temperature senses on the side of the body opposite to the lesion. SYN: lateral medullary s., Wallenberg s..
- posterior leukoencephalopathy s. a reversible clinicoradiologic s. characterized by confusion, headaches, seizures, cortical blindness and other visual abnormalities, emesis, and motor signs, associated with MRI or CT evidence of bilateral white matter edema involving the parietal-occipital cerebral regions.
- postgastrectomy s. SYN: dumping s..
- postmalaria neurologic s. a self-limited central nervous system disorder that develops soon after recovery from a severe bout of falciparum malaria, characterized principally by an acute state of confusion or psychosis, generalized convulsions, or both, lasting 1–10 days and associated with negative blood smears for malaria parasite; linked to preceding mefloquine therapy.
- postmaturity s. gestation extending 43 weeks or longer; sometimes associated with fetal dysmaturity.
- postmyocardial infarction s. (PMIS) a complication developing several days to several weeks after myocardial infarction; its clinical features are fever, leukocytosis, chest pain, and evidence of pericarditis, sometimes with pleurisy and pneumonitis, with a strong tendency to recurrence; probably of immunopathogenetic origin.
- postpericardiotomy s. pericarditis, with or without fever and often in repeated episodes, weeks to months after cardiac surgery. SYN: postcardiotomy s., postcommissurotomy s..
- postphlebitic s. a state characterized by edema, pain, stasis dermatitis, cellulitis, and varicose veins, and in the late stages associated with ulceration of the lower leg, most often as a sequel to deep venous thrombosis of the lower extremity.
- postrubella s. a group of congenital defects resulting from maternal rubella during the first trimester of pregnancy and including microphthalmos, cataracts, deafness, mental retardation, patent ductus arteriosus, and pulmonary artery stenosis.
- postthrombotic s. a s. that follows a vascular thrombosis. Term is usually used to indicate difficulties, such as persistent edema, following venous thrombosis.
- posttraumatic s. a clinical disorder that often follows head injury, characterized by headache, dizziness, neurasthenia, hypersensitivity to stimuli, and diminished concentration.
- posttraumatic neck s. a clinical complex of pain, tenderness, tight neck musculature, vasomotor instability, and ill-defined symptoms such as dizziness and blurred vision as the result of trauma to the neck. Also variously termed occipital or suboccipital neuralgia or neuritis; cervical tension s.; cervical myospasm, myositis, or fibrositis. SYN: cervical fibrositis, cervical tension s..
- posttraumatic stress s. a disorder appearing after a physically or psychologically traumatic event outside the range of usual human experience, ( e.g., a serious threat to one's life or seeing a loved one killed), characterized by symptoms of re-experiencing the event, numbing of responsiveness to the environment, exaggerated startle response, guilt feelings, impairment of memory, and difficulties in concentration and sleep.
- Potter s. renal agenesis with hypoplastic lungs and associated neonatal respiratory distress, hemodynamic instability, acidosis, cyanosis, edema, and characteristic (Potter) facies; death usually occurs from respiratory insufficiency, which develops before uremia.
- Prader-Willi s. [MIM*176270] a congenital s. characterized by short stature, mental retardation, polyphagia with marked obesity, and sexual infantilism; severe muscular hypotonia and poor responsiveness to external stimuli decrease with age; a small deletion is demonstrable in the paternal-derived chromosome 15q11–13 in many cases; some cases are due to maternal uniparental disomy ( i.e., both chromosomes 15 are derived from the mother).
- precordial catch s. a benign s. of uncertain origin, characterized by sharp, sudden pain in the region of the cardiac apex on inspiration, yet usually relieved by forcing a deeper breath; tenderness is absent.
- preexcitation s. SYN: Wolff-Parkinson-White s..
- preinfarction s. abrupt development of angina pectoris or worsening of existing angina by increases in its frequency or severity; sometimes heralds myocardial infarction.
- premenstrual s. (PMS) in women of reproductive age, a constellation of emotional, behavioral, and physical symptoms that occur in the luteal (premenstrual) phase of the menstrual cycle and subside with the onset of menstruation; characterized by swelling and weight gain due to fluid retention, breast tenderness, irritability, mood swing s, anxiety, depression, drowsiness, fatigue, difficulty concentrating, and changes in appetite and libido. SYN: late luteal phase dysphoria, late luteal phase dysphoric disorder, menstrual molimina, premenstrual tension s., premenstrual tension.About 80% of menstruating women aged 25–40 experience some symptoms of PMS with at least some menstrual cycles, and about 5% have severe and disabling symptoms. A specific biologic cause has not been identified. Reported abnormalities in serotonin metabolism have led to the hypothesis that in women with PMS the normal hormonal fluctuations of the menstrual cycle interact with a neurotransmitter dysregulation to trigger mood and anxiety symptoms. No drug therapy has been approved by the FDA for the treatment of PMS. However, oral contraceptives and serotonergic antidepressants are widely used for this indication. Reducing caffeine and salt intake may lessen associated malaise and depression, and regular exercise and a diet high in complex carbohydrates may help to minimize the severity of episodes. In a large study, daily consumption of 1.2 g of calcium in a chewable supplement reduced symptoms to a greater extent than placebo. After its inclusion in the 1987 edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-III), PMS became a subject of debate among feminists, who doubted that it qualifies as a true disorder. PMS was used as a successful defense in a murder trial in the U.K.
- premenstrual salivary s. glandular abnormalities occurring prior to the onset of menses, including swelling of the breast tissues and enlargement of the salivary glands.
- premotor s. hemiplegia with spasticity, Rossolimo reflex, but not the Babinski sign, together with forced grasping and vasomotor disturbances.
- pronator teres s. entrapment or compression of the median nerve in the proximal forearm usually where the nerve passes between the two heads of the pronator teres muscle.
- Proteus s. a sporadic disorder of possible genetic origin, having a variable and changing phenotype; characterized by grossly enlarged hands and feet, distorted abnormal growth, and gigantism of the head; often confused with neurofibromatosis type I. SYN: elephant man's disease (1).
- prune belly s. a s. of deficient abdominal muscle, undescended testes, large hypotonic bladder and dilated, tortuous ureters. SYN: Eagle-Barrett s..
- pseudoexfoliation s. a condition, often leading to glaucoma, in which deposits on the surface of the lens resemble exfoliation of the lens capsule. SEE ALSO: pseudoexfoliation of lens capsule. SYN: exfoliation s..
- psychogenic nocturnal polydipsia s., PNP s. emotionally induced excessive water drinking at night.
- pterygium s. [MIM*178110, MIM*265000, MIM*312150] webbing of the neck, antecubital fossae, and popliteal fossae with flexion deformities of the limbs and anomalies of the vertebrae; autosomal dominant, autosomal recessive, and X-linked recessive inheritance have all been described.
- pulmonary dysmaturity s. a respiratory disorder occurring in small, premature infants who are incapable of normal pulmonary ventilation and who often die of hypoxia after an illness of 6–8 weeks; the lungs contain widespread focal emphysematous blebs and the parenchyma has thickened alveolar walls; diagnosed principally on the basis of the clinical history, chest radiographic findings, and the findings at autopsy, which must include the absence of pathological changes characteristic of other pulmonary disorders commonly encountered in this age group. SYN: Wilson-Mikity s..
- punchdrunk s. a condition seen in boxers, often years after their retirement, and presumably caused by repeated cerebral injury; characterized by weakness in the lower limbs, unsteadiness of gait, slowness of muscular movements, tremors of hands, dysarthria, and slow cerebration.
- radial tunnel s. pain in the lateral aspect of the elbow and forearm without motor or sensory deficits, resulting from compression of the radial nerve, at any of various sites along its course, as it passes the elbow and the proximal forearm.
- radicular s. a group of symptoms resulting from any interference with the intradural portion of one or more spinal nerve roots; the chief symptoms are pain, paresthesia, hypesthesia, or hyperesthesia, motor, trophic, and reflex disturbances.
- Raeder paratrigeminal s. a postganglionic Horner s. associated with trigeminal nerve dysfunction caused by involvement of the carotid sympathetic plexus, near Mechel cave.
- Rasmussen s. SYN: rasmussen encephalitis.
- Raynaud s. idiopathic paroxysmal bilateral cyanosis of the digits due to arterial and arteriolar contraction; caused by cold or emotion. SEE ALSO: Raynaud phenomenon. SYN: Raynaud disease, symmetric asphyxia.
- Refetoff s. a condition characterized by goiter and elevated serum level of thyroid hormones without manifestations of thyrotoxicosis, due to target organ unresponsiveness to thyroid hormones.
- Reifenstein s. [MIM*312300 and MIM*313700] partial androgen sensitivity; a familial form of male pseudohermaphroditism characterized by varying degrees of ambiguous genitalia or hypospadias, postpubertal development of gynecomastia, and infertility associated with seminiferous tubular sclerosis; cryptorchidism may be present, and Leydig cell hypofunction may lead to impotence in later years; chromosomal studies show 46,XY karyotype; X-linked recessive inheritance, caused by mutation in the androgen receptor gene (AR) on Xq.
- Reiter s. the association of urethritis, iridocyclitis, mucocutaneous lesions, and arthritis, sometimes with diarrhea; one or more of these conditions may recur at intervals of months or years, but the arthritis may be persistent. SYN: Fiessinger-Leroy-Reiter s., Reiter disease.
- REM s. a reticular erythematous dermatitis of the upper trunk, more common in women, in which there is perivascular infiltrate of lymphocytes, few plasma cells, and upper dermal deposits of mucin; worsens on exposure to ultraviolet light. SYN: reticular erythematous mucinosis.
- Renpenning s. [MIM*309500] X-linked mental retardation with short stature and microcephaly not associated with the fragile X chromosome; occurs more frequently in males, although some females may also be affected.
- residual ovary s. the development of a pelvic mass, pelvic pain, and occasionally dyspareunia following hysterectomy without removal of both ovaries.
- resistant ovary s. [MIM*176440] amenorrhea associated with hypergonadotrophism and usually normal ovarian follicles; may be autosomal dominant in inheritance.
- restless legs s. a sense of indescribable uneasiness, twitching, or restlessness that occurs in the legs after going to bed, frequently leading to insomnia, which may be relieved temporarily by walking about; thought to be caused by inadequate circulation or as a side effect of antipsychotic medication. SEE ALSO: akathisia. SYN: Ekbom s., restless legs.
- retraction s. a retraction of the globe and pseudoptosis on attempted adduction; due to co-innervation of the horizontal recti. Sometimes there is an inability to abduct the affected eye (type 1), or adduct the affected eye (type 2), or both (type 3). SYN: Duane s..
- Rett s. [MIM*312750] 1. a pervasive developmetnal disorder characterized by the development of several specific deficits after an apparently normal prenatal and perinatal period, including deceleration in head growth, loss of purposeful hand skills with deterioration into stereotypical hand movements, impairment in expressive and receptive language, and significant psychomotor retardation; 2. a DSM diagnosis that is established when the specified criteria are met.
- Reye s. an acquired encephalopathy of young children that follows an acute febrile illness, usually influenza or varicella infection; characterized by recurrent vomiting, agitation, and lethargy, which may lead to coma with intracranial hypertension; ammonia and serum transaminases are elevated; death may result from edema of the brain and resulting cerebral herniation.
- Rh null s. [MIM*268150] a condition characterized by lack of all Rh antigens, compensated hemolytic anemia, and stomatocytosis; autosomal recessive inheritance, caused by mutation in the Rhesus-associated polypeptide 50-kD gene (RH50A) on chromosome 6p.
- Richards-Rundle s. [MIM*245100] a neurologic disorder beginning in early childhood with severe, progressive sensorineural hearing loss, ataxia, muscle wasting nystagmus, absent deep tendon reflexes, mental retardation, failure to develop secondary sexual characteristics, and ketoaciduria; autosomal recessive inheritance.
- Richter s. a high-grade lymphoma developing during the course of chronic lymphocytic leukemia; associated with cachexia, pyrexia, dysproteinemia, and lymphomas with multinucleated tumor cells.
- Rieger s. [MIM*180500] iridocorneal mesenchymal dysgenesis combined with hypodontia or anodontia and maxillary hypoplasia; autosomal dominant; there is a delayed sexual development and hypothyroidism.
- Riley-Day s. SYN: familial dysautonomia.
- Roaf s. a nonhereditary craniofacial-skeletal disorder characterized by congenital or early retinal detachment, cataracts, myopia, shortened long bones, and mental retardation; progressive sensorineural hearing loss is of later onset.
- Roberts s. [MIM*268300] phocomelia or lesser degrees of hypomelia, microbrachycephaly, midfacial defect, prenatal growth deficiency, and cryptorchidism; associated with chromosomal centromeric abnormalities; autosomal recessive inheritance.
- Robin s. SYN: Pierre Robin s..
- Robinow s. [MIM*180700] a skeletal dysplasia characterized by bulging forehead, hypertelorism, depressed nasal bridge (so-called fetal face), wide mouth, acromesomelic shortening of limbs, hemivertebrae, and hypoplastic genitalia; there is also an autosomal recessive form [MIM*268310]. SEE ALSO: fetal face s.. SYN: Robinow dwarfism.
- Romano-Ward s. [MIM*192500] a prolonged Q-T interval in the electrocardiogram in children subject to attacks of unconsciousness that result from ventricular arrhythmias including ventricular fibrillation; autosomal dominant inheritance, with one form caused by mutation in the potassium channel gene (KVLQT1) on chromosome 11p. Cf.:Jervell and Lange-Nielsen s.. SYN: Ward-Romano s..
- Rothmund s. [MIM*268400] atrophy, pigmentation, and telangiectasia of the skin, usually with juvenile cataract, saddle nose, congenital bone defects, disturbance of hair growth, hypogonadism; autosomal recessive inheritance. SYN: poikiloderma atrophicans and cataract, poikiloderma congenitale, Rothmund-Thomson s..
- Rotor s. jaundice appearing in childhood due to impaired biliary excretion; most of the plasma bilirubin is conjugated, liver function tests are usually normal, and there is no hepatic pigmentation.
- Roussy-Lévy s. SYN: Roussy-Lévy disease.
- Rubinstein-Taybi s. [MIM*180849] mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set ears, high arched palate, and cardiac anomaly; there may be a submicroscopic chromosomal defect, but there is evidence that this s. is due to mutation in the gene encoding transcriptional coactivator CREB-binding protein (CREB) on chromosome 16p.
- Rud s. [MIM*308200] ichthyosiform erythroderma associated with acanthosis nigricans, dwarfism, hypogonadism, and epilepsy; mostly sporadic, but may be an X-linked recessive trait.
- runting s. if newborn mice are thymectomized, they do not gain weight and their lymphoid tissue atrophies. SYN: wasting s. (1).
- Russell s. failure of infants and young children to thrive due to suprasellar lesions, commonly astrocytomas of the anterior third ventricle; although the growth hormone may be elevated, the child is emaciated and has loss of body fat. SEE ALSO: pseudohydrocephaly.
- Saethre-Chotzen s. condition characterized by craniosynostosis, asymmetry of skull (plagiocephaly), ptosis, prominent ear crus, and cutaneous syndactyly of fingers 2–3 and toes 3–4; autosomal dominant inheritance, caused by mutation in the TWIST transcription factor gene on chromosome 7p. SYN: Chotzen s., type III acrocephalosyndactyly.
- salt-losing s. SYN: salt-losing nephritis.
- Sanchez Salorio s. a s. characterized by retinal pigmentary dystrophy, cataract, hypotrichosis of the lashes, mental deficiencies, and retarded somatic development.
- Sandifer s. torticollis (q.v.) in infants, associated with gastroesophageal reflux; may be a mechanism to protect the airway or reduce acid reflux–associated pain.
- Sanfilippo s. [MIM*252900, MIM*252920, MIM*252930,] an error of the mucopolysaccharide metabolism, with excretion of large amounts of heparan sulfate in the urine; characterized by severe mental retardation with hepatomegaly; skeleton may be normal or may present mild changes similar to those in Hurler s.; several different types (A, B, C, and D) have been identified according to the enzyme deficiency; autosomal recessive inheritance. SYN: type III mucopolysaccharidosis.
- scalded mouth s. a s. in which the patient complains of a burning sensation of the tongue, lips, throat, or palate, likened to scalding caused by hot liquids; clinically the tissues appear normal; it has been associated with angiotensin-converting enzyme (ACE) inhibitors.
- scalenus anterior s. one of the precursors of disputed neurogenic thoracic outlet s.; a popular cause for upper extremity discomfort in the late 1930s and 1940s, based on the unproven concept that the lower trunk of the brachial plexus and the subclavian artery could be compressed in the intrascalene triangle by a hypertrophic scalenus anticus muscle, the compression in turn affecting the nerves to it and setting up a vicious circle; this concept was essentially abandoned in the 1950s, when actual causes, such as cervical radiculopathy and carpal tunnel s., for upper extremity symptoms were appreciated, but resurrected in the 1980s, without attribution, as etiology for upper plexus type of disputed neurologic thoracic outlet s..
- scapulocostal s. pain of insidious development in the upper or posterior part of the shoulder radiating into the neck and occiput, down the arm, or around the chest; there may be numbness or tingling in the fingers; attributed to an alteration from the normal relationship between the scapula and posterior wall of the thorax.
- Schaumann s. SYN: sarcoidosis.
- Scheie s. [MIM*252800] allelic to Hurler s. but with a much milder phenotype; characterized by α-l-iduronidase deficiency, corneal clouding, deformity of the hands, aortic valve involvement, and normal intelligence; autosomal recessive inheritance, caused by mutation in the alpha-l-iduronidase gene (IUDA) on chromosome 4p. SYN: type IS mucopolysaccharidosis.
- Schmid-Fraccaro s. SYN: cat's-eye s..
- Schmidt s. 1. unilateral paralysis of a vocal cord, the velum palati, trapezius, and sternocleidomastoid. [J.F.M. Schmidt] 2. the association of primary hypothyroidism, primary adrenocortical insufficiency, and insulin-dependent diabetes mellitus. [M.B. Schmidt]
- Schnitzler s. tense, generalized chronic urticaria, joint or bone pain, and monoclonal gammopathy of kappa type.
- Schönlein-Henoch s. SYN: Henoch-Schönlein purpura.
- Schüller s. SYN: Hand-Schüller-Christian disease.
- Schwartz s. [MIM*255800] a congenital disorder characterized by myotonic myopathy, dystrophy of epiphyseal cartilages resulting in dwarfism, joint contractures, blepharophimosis, and characteristic facies; autosomal recessive inheritance.
- Seckel s. [MIM*210600] an autosomal recessive disorder characterized by low birth weight, dwarfism, microcephaly, large eyes, beaked nose, receding mandible, and moderate mental retardation. SYN: Seckel dwarfism.
- Seip s. SYN: congenital total lipodystrophy.
- Senear-Usher s. SYN: pemphigus erythematosus.
- sepsis s. clinical evidence of acute infection with hyperthermia or hypothermia, tachycardia, tachypnea and evidence of inadequate organ function or perfusion manifested by at least one of the following: altered mental status, hypoxemia, acidosis, oliguria, or disseminated intravascular coagulation.
- Sertoli-cell-only s. [MIM*305700] the absence from the seminiferous tubules of the testes of germinal epithelium, Sertoli cells alone being present; there is sterility due to azoospermia but no other sexual abnormality, Leydig cells are normal, and the level of gonadotrophins in the plasma and urine is increased; probably represents one form of seminiferous tubule dysgenesis. SYN: Del Castillo s..
- Sézary s. exfoliative dermatitis with intense pruritus, resulting from cutaneous infiltration by atypical mononuclear cells (T lymphocytes with markedly convoluted or cerebriform nuclei) also found in the peripheral blood, and associated with alopecia, edema, and nail and pigmentary changes; a variant of mycosis fungoides. SYN: Sézary erythroderma.
- shaken baby s. (SBS) a s. of neurologic and other injuries, of variable presentation, induced by the violent shaking of an infant.Shaken baby s. is an increasingly recognized form of child abuse. Vigorous shaking of an infant, with or without direct violence to the head, can result in spinal cord injury or intracranial bleeding, with irreversible brain damage, blindness, hearing loss, seizures, learning disabilities, paralysis, or death. SBS occurs most often before the age of 1 and seldom after age 2. Infants under 6 months are particularly vulnerable because of their disproportionately heavy heads, weak neck muscles, and thin skulls. About 1000 babies are hospitalized annually in the U.S. with this diagnosis; about 25% of them die and about 25% of the survivors suffer irreversible brain damage. Men are more likely than women to inflict injury by shaking. Boys are more likely than girls to be victims, and twins are at higher risk than singletons. Most cases occur as an impulsive response of the caregiver to a child's persistent crying. In the typical incident, no one is present but the caregiver and the victim. There may be a prior history of abuse, or evidence of previous injury. The guilty person may invent a story of accidental injury to explain the findings. Signs of SBS vary widely, from a flulike presentation or lethargy to unexplained vomiting, seizures, or coma. The classical triad of subdural hematoma, cerebral edema, and retinal or subhyaloid hemorrhage is often absent. Finger marks may be found on the chest wall or around the shoulders, but often there are no external signs of injury. One-half of patients with subdural hematoma have no skull fracture. Prevention of shaken baby s. requires education of parents and others entrusted with the care of small children as to the grave danger of shaking a baby. New parents should be informed that all babies cry and that shaking is never an appropriate response. Alternative modes of coping with the stress of a crying baby should be planned. Parents must also exercise caution in selecting babysitters, day-care centers, or child-care agencies. All caregivers should be enjoined never to touch a child in anger. Health professionals must be alert for subtle signs of SBS and other forms of child abuse.
- Sheehan s. hypopituitarism developing postpartum as a result of pituitary necrosis; caused by ischemia resulting from a hypotensive episode during delivery. SYN: pituitary cachexia, postpartum pituitary necrosis s., Simmonds disease, thyrohypophysial s..
- Shone s. the association of obstructive lesions of the mitral valve complex, including supravalvar ring and parachute mitral valve, with left ventricular outflow obstruction and coarctation of the aorta.
- short-bowel s. malabsorption and maldigestion resulting from disease or resection of large portions of the small intestine.
- Shprintzen s. SYN: velocardiofacial s..
- Shulman s. SYN: eosinophilic fasciitis.
- Shwachman s. [MIM*260400] an autosomal recessive disorder characterized by sinusitis, bronchiectasis, pancreatic insufficiency resulting in malabsorption, neutropenia with defect in neutrophile chemotaxis, short stature, and skeletal changes with radiographic findings of metaphyseal flaring of long bones. SYN: Shwachman-Diamond s..
- Shwachman-Diamond s. SYN: Shwachman s..
- Shy-Drager s. [MIM*146500] a now-obsolete term for multiple system atrophy in which autonomic nervous system failure predominates.
- sicca s. SYN: Sjögren s..
- sick sinus s. [MIM*182190] symptoms ranging from dizziness to unconsciousness due to chaotic or absent atrial activity often with bradycardia alternating with tachycardia, recurring ectopic beats including escape beats, runs of supraventricular and ventricular arrhythmias, sinus arrest, and sinoatrial block.
- Silver-Russell s. [MIM*270050] a disorder characterized by low birth weight, late closure of the anterior fontanel, bilateral bodily asymmetry, clinodactyly of the fifth fingers, triangular facies, and carp mouth; little useful genetic evidence. SYN: Silver-Russell dwarfism.
- Silverskiöld s. a type of osteochondrodystrophy with only slight vertebral changes but with shortened and curved long bones of the extremities.
- sinus venosus s. the association of partial anomalous, pulmonary-venous connection, and a small venosus ASD.
- Sipple s. [MIM*171400] pheochromocytoma, medullary carcinoma of the thyroid, and parathyroid adenomas; autosomal dominant inheritance, caused by mutation in the RET oncogene on chromosome 10q.
- Sjögren s. keratoconjunctivitis sicca, dryness of mucous membranes, telangiectasias or purpuric spots on the face, and bilateral parotid enlargement; seen in menopausal women and often associated with rheumatoid arthritis, Raynaud phenomenon, and dental caries; there are changes in the lacrimal and salivary glands resembling those of Mikulicz disease. SYN: Gougerot-Sjögren disease, sicca s., Sjögren disease. [H.S.C. Sjögren]
- Sjögren-Larsson s. [MIM*270200] congenital ichthyosis in association with oligophrenia and spastic paraplegia; autosomal recessive inheritance, caused by mutation in the fatty aldehyde dehydrogenase gene (FALDH) on chromosome 17p.
- sleep apnea s. a disorder characterized by multiple episodes of partial or complete cessation of respiration during sleep.
- sleep phase delay s. a disorder in which the circadian rhythm of sleep and waking falls into a delayed but stable relationship with external time cues of day and night.
- SLE-like s. a disease with manifestations suggestive of systemic lupus erythematosus, without meeting diagnostic criteria for that disease; sometimes used for drug-induced lupus.
- slit ventricle s. in shunt-dependent patients, a state characterized by intermittent or chronic headaches, small ventricles, and slow reflux of the valve mechanism.
- Sly s. an autosomal recessive disorder due to a deficiency of a β-glucuronidase; defective lysosomal degradation of dermatan sulfate, heparan sulfate, and chondroitin sulfate; cellular function disrupted in most tissues. SYN: type VII mucopolysaccharidosis (1).
- Smith-Lemli-Opitz s. [MIM*270400] mental retardation, small stature, anteverted nostrils, ptosis, male genital anomalies, and syndactyly of the second and third toes, often in breech-born babies with delayed fetal activity; inherited as an autosomal recessive trait.
- Smith-Riley s. multiple hemangiomas, macrocephaly, and blurred optic disks; angiomas appear at birth or later, and enlarge and multiply.
- Sneddon s. a cerebral arteriopathy of unknown etiology, characterized by noninflammatory intimal hyperplasia of medium-sized vessels associated with diffuse cutaneous livedo reticularis.
- Sohval-Soffer s. [MIM 307500] hypogonadism, gynecomastia, skeletal anomalies, and mental retardation; probably X-linked inheritance.
- Sotos s. [MIM*117550] cerebral gigantism and generalized large muscles in childhood, with mental retardation and defective coordination; of unknown etiology. Most cases have been sporadic, perhaps new dominant mutations with low fitness, but there is one set of concordant identical twins on record.
- space adaptation s. alterations in normal physiology that occur during prolonged exposure to weightlessness, unless preventive measures are taken. Characterized by muscle atrophy, loss of mineral from bones, cardiovascular changes, etc.
- splenic flexure s. symptoms of pain, gas, bloating, a sense of fullness experienced in the left upper abdominal quadrant, sometimes beneath the ribs, in some instances radiating upward, and in some instances producing anterior chest pain central or predominantly on the left. It may be induced experimentally by the introduction and trapping of air in the splenic flexure.
- staphylococcal scalded skin s. a disease affecting infants in which large areas of skin peel off, as in a second-degree burn, as a result of upper respiratory staphylococcal infection even though the skin lesions are sterile; the level of skin separation is subcorneal, unlike a burn or the clinically similar toxic epidermal necrolysis which occurs in children and adults and which involves subepidermal cleavage. SYN: Lyell disease.
- Stauffer s. elevation of liver function tests, in the absence of metastatic disease, due to cholestasis in renal cell cancer patients.
- steroid withdrawal s. a condition exhibited by persons who previously had been receiving large therapeutic doses of glucocorticoid hormones for long periods of time; pituitary-adrenocortical insufficiency is manifested, particularly during stress, for as long as a year or more thereafter and varying degrees of emotional disturbance may be exhibited.
- Stevens-Johnson s. a bullous form of erythema multiforme which may be extensive, involving the mucous membranes and large areas of the body; it may produce serious subjective symptoms and may have a fatal termination. SEE ALSO: ocular-mucous membrane s.. SYN: erythema multiforme bullosum, erythema multiforme exudativum, erythema multiforme major.
- stiff heart s. any condition, usually acute, that causes the heart to be restricted in diastole mainly affecting the ventricles and at one time a complication of cardiac surgery.
- stiff man s. a rare disorder manifested clinically by the continuous isometric contraction of many of the somatic muscles; contractions are usually forceful and painful and most frequently involve the trunk musculature, although limb muscles may be involved. This is an autoimmune disease, with circulating antibodies against the GABA-synthesizing enzyme and glutamic acid decarboxylase, among other types of antibodies present.
- Stockholm s. a form of bonding between a captive and captor in which the captive begins to identify with, and may even sympathize with, the captor. [Stockholm, Sweden, where early case reported]
- straight back s. loss of the normal concavity of the thoracolumbar spine with a narrowed anteroposterior chest dimension, resulting compression of the heart between spine and sternum, and consequent prominent precordial pulsations, an ejection murmur, and radiologic evidence of a widened cardiac silhouette (pancaked heart).
- streptococcal toxic shock s. a toxic s. characterized by hypotension and a variety of signs and symptoms indicative of multiorgan failure including cerebral dysfunction, renal failure, acute respiratory distress s., toxic cardiomyopathy, and hepatic dysfunction. The s. is usually precipitated by local infections of skin or soft tissue by streptococci; mortality of 30% has been reported.
- Stryker-Halbeisen s. reddish, scaling, macular eruption on the head and upper trunk due to vitamin B complex deficiency; associated with macrocytic anemia.
- Sturge-Weber s. [MIM*185300] in its complete form, a triad of unilateral occurrence of 1) congenital capillary malformation (flame nevus) in the distribution of the trigeminal nerve; 2) leptomeningeal vascular malformations with intracranial calcification and neurologic signs; and 3) vascular malformation of the choroid, often with secondary glaucoma. Inheritance is unclear with most cases sporadic. SEE ALSO: encephalotrigeminal vascular s.. SYN: cephalotrigeminal angiomatosis, encephalotrigeminal angiomatosis, Sturge-Kalischer-Weber s., Sturge-Weber disease.
- sudden infant death s. (SIDS) the sudden death of an apparently healthy infant that remains unexplained after all known possible causes have been ruled out through autopsy, death scene investigation, and review of the medical history. SYN: cot death, crib death.SIDS is the leading cause of death in infants between 1 week and 1 year of age, with an approximate rate of 2 per 1000 live births; 6000–7000 babies die of SIDS every year in the U.S. The peak age is 2–4 months and most deaths occur during the winter months (October to April in the northern hemisphere). The case definition specifically excludes death due to drugs or poisons, apnea, respiratory infection, suffocation, aspiration of vomitus, choking, accidental strangulation, and child abuse. Most victims appear healthy before death, which occurs rapidly, usually during sleep. SIDS strikes families of all races and socioeconomic levels. It is slightly more common in males, and the second child is more susceptible than the first. Some theories suggest a congenital or developmental defect, but the phenomenon does not show familial clustering. In the present state of knowledge, SIDS cannot be predicted, prevented, or reversed. However, statistical studies have identified certain risk factors, among them maternal smoking before and after birth, inadequate prenatal care, low birth weight, young maternal age, and maternal hard drug use. Some but not all studies have suggested that breast-feeding slightly reduces the risk. Gastric infection with Helicobacter pylori has been speculatively implicated in some cases. The most important risk factor identified to date is sleeping in the prone position. Sleeping on the side is less dangerous than sleeping prone, but more dangerous than sleeping supine. The reason for these differences is unknown, but the incidence of SIDS has markedly declined since 1992, when the American Academy of Pediatrics first recommended that healthy infants be placed on their backs for sleep. For infants with gastroesophageal reflux, swallowing dysfunction, or unilateral vocal cord paralysis, the prone position may be preferred. For healthy infants, the supine position does not increase the risk of vomiting and aspiration. Current medical practice emphasizes reduction of risk through avoidance of the prone sleeping position and of maternal smoking, and education, counseling, and emotional support of the parents of victims.
- sump s. a complication of side-to-side choledochoduodenostomy in which the lower end of the common bile duct at times acts as a diverticulum, resulting in stasis, trapping of food particles, and infection.
- superior cerebellar artery s. s. due to thrombosis of the superior cerebellar artery which supplies the spinothalamic tract and the superior cerebellar peduncle; there is incoordination in performing skilled movements, with loss of pain and temperature senses on the side of the face and body opposite to that of the lesion.
- superior mesenteric artery s. vomiting believed to be secondary to compression of the duodenum by the superior mesenteric artery; associated with rapid weight loss. SYN: Wilkie disease.
- superior vena cava s. complete or partial obstruction of the superior vena cava, usually by cancer, causing edema and engorgement of the veins of the face, neck, and arms, nonproductive cough, cerebral symptoms, and dyspnea.
- supine hypotensive s. in the supine pregnant woman at or near term, maternal hypotension; maternal hypotension is due to obstruction by the gravid uterus of the inferior vena cava with resulting decrease in venous return to the heart; fetal hypoxia is due to maternal hypotension and obstruction of the maternal aorta by the gravid uterus with resulting decrease in placental perfusion.
- supraspinatus s. pain on elevation of the shoulder and tenderness on deep pressure over the supraspinatus tendon; due to pressure of an injured or inflamed tendon or inflamed subacromial bursa coming into contact or pressing on the overlying acromial process when the arm is elevated over the shoulder level. SYN: impingement s., painful arc s..
- supravalvar aortic stenosis s. [MIM*185500] supravalvar aortic stenosis (usually membranous) sometimes associated with pulmonary valvar or peripheral arterial stenosis but with normal facies and mentality; autosomal dominant inheritance, caused by mutation in the elastin gene (ELN) on chromosome 7q. Cf.:Williams s..
- surdocardiac s. SYN: Jervell and Lange-Nielsen s..
- sweaty feet s. SYN: isovaleric acidemia.
- Swyer-James s. 1. SYN: unilateral lobar emphysema. 2. hyperlucency of one lung from obliterating bronchiolitis, usually caused by adenovirus infection in childhood, with decreased size and vascularity of the lung; distinguished from other causes of unilateral hyperlucency by demonstration of air trapping without central obstruction.
- Swyer-James-MacLeod s. SYN: unilateral lobar emphysema.
- tachybradycardia s. SYN: bradytachycardia s..
- tachycardia-bradycardia s. alternating periods of slow and rapid heart beat; often associated with disturbances of both sinoatrial and atrioventricular conduction. SEE ALSO: sick sinus s..
- Tapia s. unilateral paralysis of the larynx, the velum palati, and the tongue, with atrophy of the latter.
- tarsal tunnel s. s. produced by entrapment neuropathy of terminal branches of posterior tibial nerve (medial plantar, lateral plantar, and calcanial nerves) at the ankle.
- Taussig-Bing s. complete transposition of the aorta, which arises from the right ventricle, with a left-sided pulmonary artery overriding the left ventricle, and with high ventricular septal defect, right ventricular hypertrophy, anteriorly situated aorta, and posteriorly situated pulmonary artery. SYN: Taussig-Bing disease.
- tegmental s. a s. usually caused by a vascular lesion in the tegmentum; marked by contralateral hemiplegia and ipsilateral ocular paresis.
- temporomandibular s. symptoms of discomfort and pain caused by loss of vertical dimension, lack of posterior occlusion, or other malocclusion, trismus, muscle tremor, arthritis, or direct trauma to the temporomandibular joint.
- tendon sheath s. limited elevation of the eye in adduction, appearing clinically as a paresis of the inferior oblique muscle, due to fascia contracting the superior oblique muscle on the same side. SYN: Brown s., Paterson-Brown-Kelly s..
- Terry s. SYN: retinopathy of prematurity.
- testicular feminization s. [MIM*313700] a type of male pseudohermaphroditism characterized by female external genitalia (may be ambiguous if the s. is incomplete), incompletely developed vagina often with rudimentary uterus and fallopian tubes, female habitus at puberty but with scanty or absent axillary and pubic hair and amenorrhea, and testes present within the abdomen or in the inguinal canals or labia majora; epididymis and vas deferens are usually present; androgens and estrogens are formed, but target tissues are largely unresponsive to androgens; individuals have a normal male karyotype; X-linked recessive inheritance, caused by mutation in the androgen receptor gene (AR) on chromosome Xq.
- tethered cord s. abnormal low positioning (below the L2 vertebrae) of the distal spinal cord (conus medullaris) by the filum terminale. May be associated with incontinence, progressive motor and sensory impairment in the legs, pain, and scoliosis.
- thalamic s. a s. produced by infarction of the posteroinferior thalamus causing transient hemiparesis, severe loss of superficial and deep sensation with preservation of crude pain in the hypalgic limbs which frequently have vasomotor or trophic disturbances. SYN: Dejerine-Roussy s..
- Thiemann s. avascular necrosis of the epiphyses of phalanges of fingers or toes, usually familial, beginning in childhood or adolescence, leading to deformity of fingers; also called familial arthropathy of the fingers or toes. SYN: Thiemann disease.
- thoracic outlet s. (TOS) collective title for a number of conditions attributed to compromise of blood vessel s or nerve fibers (brachial plexus) at any point between the base of the neck and the axilla; formerly classified on the basis of presumed injurious structure or mechanism, i.e., scalenus anticus s., hyperabduction s., costoclavicular s.; currently classified on the basis of the structure known or presumed to be compromised, and divided into two main groups: vascular and neurologic (simultaneous compromise of both neural and vascular structures is rare); vascular subdivisions include arterial and venous.
- Thorn s. SYN: salt-losing nephritis.
- thrombocytopenia-absent radius s., TAR s. [MIM*274000] congenital absence of the radius associated with thrombocytopenia that is symptomatic in infancy but later improves; congenital heart disease and renal anomalies occur in some cases; autosomal recessive inheritance.
- thrombopathic s. a nondescript term to describe any of a number of bleeding diseases in which clot formation is deficient rather than those in which there is an organic fault of the blood vessel s.
- thyrohypophysial s. SYN: Sheehan s..
- Tietz s. autosomal dominant inheritance of albinism and deafness caused at least in some subsets of families by a mutation of the microophthalmia transcription factor gene.
- Tietze s. inflammation and painful, tender nonsuppurative swelling of a costochondral junction. SYN: peristernal perichondritis.
- tooth-and-nail s. [MIM*189500] hypodontia associated with absent or very small nails at birth. Common among Dutch Mennonites in Canada.
- TORCH s. a group of infections seen in neonates that have crossed the placental barrier with similar clinical manifestations, although symptoms may vary in degree and time of appearance: toxoplasmosis, other infections, rubella, cytomegalovirus infection, and herpes simplex.
- Tornwaldt s. nasopharyngeal discharge, occipital headache, and stiffness of posterior cervical muscles, with halitosis due to chronic infection of the pharyngeal bursa.
- Torre s. multiple sebaceous gland adenomas associated with multiple visceral malignancies, often colorectal carcinoma. SYN: Muir-Torre s..
- Torsten Sjögren s. SYN: Marinesco-Garland s..
- Tourette s. a tic disorder appearing in childhood, characterized by multiple motor tics and vocal tics present for more than 1 year. Obsessive-compulsive behavior, attention-deficit disorder, and other psychiatric disorders may be associated; coprolalia and echolalia rarely occur; autosomal dominant inheritance. SYN: Gilles de la Tourette disease, Gilles de la Tourette s., Tourette disease.
- toxic shock s. (TSS) infection with toxin-producing staphylococci, occurring most often in the vagina of menstruating women using superabsorbent tampons but also prevalent in many soft tissue infections and characterized by high fever, vomiting, diarrhea, a scarlatiniform rash followed by desquamation, and decreasing blood pressure and shock, which can result in death; hyperemia of the conjunctival, oropharyngeal, and vaginal mucous membranes also occurs.
- transplant lung s. a s. associated with fever and diffuse bilateral pulmonary infiltration mainly at the base or at the hilum of the lung; can accompany rejection of an organ (kidney, liver, etc.) transplant or follow a reduction in dosage of an immunosuppressive drug.
- transurethral resection s. absorption of glycine from irrigation solution during TUR that the liver cannot metabolize, resulting in increased serum ammonia. SYN: TUR s..
- Treacher Collins s. [MIM*154500] mandibulofacial dysostosis, when limited to the orbit and malar region.
- trichorhinophalangeal s. a condition characterized by sparse fine hair, broad nose with a long philtrum, swollen middle phalanges with cone-shaped epiphyses, and growth retardation. There seem to be at least three similar disorders, two dominant [MIM*150230 and MIM 190350] and one recessive [MIM*275500].
- triple A s. [MIM*231550] autosomal recessive s. associated with achalasia of the cardia, and alacrima; associated problems include abnormalities of the nervous system such as mental retardation and autonomic dysfunction. SYN: Allgrove s..
- triple X s. trisomy of the X chromosome; original observations (made in mental institutions) were seriously biased and the phenotypic changes spurious. Intelligence may be at the lower range of normal, stature is usually tall, there may be speech and behavioral problems. The outstanding feature of the s. is the occurrence of twin Barr bodies in a typical cell.
- trisomy 8 s. the full trisomy 8 is usually associated with early lethality, but most affected individuals are mosaic with craniofacial dysmorphism; short, wide neck; narrow cylindrical trunk; multiple joint and digital abnormalities; and deep creases of the palms and soles.
- trisomy 13 s. a chromosomal disorder that is usually fatal within 2 years; characterized by mental retardation, malformed ears, cleft lip or palate, microphthalmia or coloboma, small mandible, polydactyly, cardiac defects, convulsions, renal anomalies, umbilical hernia, malrotation of intestines, and dermatoglyphic anomalies. SYN: Patau s., trisomy D s..
- trisomy 18 s. a chromosomal disorder that is usually fatal within 2–3 years; characterized by mental retardation, abnormal skull shape, lowset and malformed ears, small mandible, cardiac defects, short sternum, diaphragmatic or inguinal hernia, Meckel diverticulum, abnormal flexion of fingers, and dermatoglyphic anomalies. SYN: Edwards s..
- trisomy 20 s. a chromosomal disorder characterized by profound mental retardation, coarse facies, macrostomia and macroglossia, minor anomalies of the ears, pigmentary dysplasia of the skin, dorsal kyphoscoliosis, and other skeletal defects.
- trophic s. ulceration of a denervated area, frequently secondary to picking at the anesthetic surface.
- tropical splenomegaly s. SYN: hyperreactive malarious splenomegaly.
- true neurogenic thoracic outlet s. very chronic axon loss brachial plexopathy, caused by compromise of the lower trunk fibers by a congenital band extending from a rudimentary cervical rib to the first thoracic rib; rare disorder, found mostly in young to middle-aged women, that presents with unilateral hand wasting and weakness, particularly involving the lateral thenar eminence; sometimes accompanied by intermittent discomfort along the medial forearm and hand. SYN: cervical rib and band s., classic cervical rib s..
- tumor lysis s. hyperphosphatemia, hypocalcemia, hyperkalemia, and hyperuricemia following induction chemotherapy of malignant neoplasms; believed to be due to the release of intracellular products by cell lysis.
- TUR s. SYN: transurethral resection s..
- Turcot s. [MIM*276300] a rare and distinctive form of multiple intestinal polyposis associated with brain tumors; autosomal recessive inheritance, caused by mutation in one of the mismatch repair genes: either MLH1 on chromosome 3p, PMS2 on chromosome 7p, or the adenomatous polyposis coli gene (APC) on 5q.
- Turner s. a s. with chromosome count 45 and only one X chromosome; buccal and other cells are usually sex chromatin-negative; anomalies include dwarfism, webbed neck, valgus of elbows, pigeon chest, infantile sexual development, and amenorrhea; the ovary has no primordial follicles and may be represented only by a fibrous streak; some individuals are chromosomal mosaic, with two or more cell lines of different chromosome constitution; seen in many animal species, in the meadow vole it is the normal female state. SYN: XO s..
- twiddler's s. condition in which a cardiac pacemaker wire is pulled out of position in the heart with rotation of the subcutaneous pacemaker by the patient's “twiddling.”
- Ulysses s. the ill effects of extensive diagnostic investigations conducted because of a false-positive result in the course of routine laboratory screening. [L. Ulysses, fr. G. Odysseus, myth. char.]
- uncombable hair s. a genetic s. in which the hair, which is often silvery blond, is unruly and resists lying flat because of irregularly shaped hair shafts. SYN: spun glass hair.
- Unna-Thost s. SYN: diffuse hyperkeratosis of palms and soles.
- unroofed coronary sinus s. a spectrum of cardiac anomalies in which part or all of the common wall between the coronary sinus and the left atrium is absent.
- urethral s. a condition of no certain etiology, characterized by urinary frequency, urgency, dysuria in the absence of specific infection, obstruction, or dysfunction. Suprapubic pain, hesitancy, and back pain may also occur. Usually seen in females.
- Usher s. [MIM*276900, MIM*276901] autosomal recessive inheritance with genetic heterogeneity; the three forms are distinguishable by linkage data : type 1 causes sensorineural hearing loss, loss of vestibular function, and retinitis pigmentosa; types 2 and 3 are characterized by hearing loss and retinitis pigmentosa.
- uveocutaneous s. SYN: Vogt-Koyanagi s..
- uveoencephalitic s. SYN: Behçet s..
- uveomeningitis s. SYN: Harada s..
- VACTERL s. abnormalities of vertebrae, anus, cardiovascular tree, trachea, esophagus, renal system, and limb buds reportedly associated with administration of sex steroids during early pregnancy.
- van Buchem s. [MIM*239100] an osteosclerosing skeletal dysplasia, characterized by mandibular enlargement, thickening of the diaphyses and calvaria, and increased serum alkaline phosphatase; autosomal recessive inheritance. SYN: generalized cortical hyperostosis.
- van der Hoeve s. a subtype of osteogenesis imperfecta in which progressive conductive hearing loss begins in childhood because of stapedial fixation.
- vanished testis s. absence of both testes in a male with normal chromosomes (XY) and otherwise normal genitalia at birth and during childhood. Testes were present in at least the first trimester of gestation, but vanished sometime thereafter.
- vanishing lung s. progressive decrease of radiographic opacity of the lung caused by accelerated development of emphysema or rapid cystic destruction of the lung from infection.
- Van Lohuizen s. SYN: cutis marmorata telangiectatica congenita.
- velocardiofacial s. [MIM*192430] a s. with hypernasal speech, dysmorphic facial features (long midface, cylindrical nose, downward turned corners of mouth), and cardiac abnormalities; same chromosomal abnormality as seen in DiGeorge s. (a microdeletion in chromosome 22q11); dominant inheritance. SYN: Shprintzen s..
- Verner-Morrison s. watery diarrhea, hypokalemia, and achlorhydria associated with secretion of vasoactive intestinal polypeptide by a pancreatic islet-cell tumor in the absence of gastric hypersecretion. SYN: WDHA s..
- Vernet s. a s. characterized by paralysis of the motor components of the glossopharyngeal, vagus, and accessory cranial nerves as they lie in the posterior fossa; it is most commonly the result of head injury.
- vibration s. tingling, numbness, and blanching of the fingers resulting from use of hand-held vibration tools; may persist without further exposure to vibration.
- virus-associated hemophagocytic s. a s. closely resembling malignant histiocytosis but potentially reversible, following a herpes group virus infection such as by the Epstein-Barr virus.
- vitreoretinal choroidopathy s. [MIM*193220] an ocular condition characterized by peripheral pigmentary retinopathy, retinal vascular abnormalities, vitreous opacities, choroidal atrophy, and presenile cataracts; autosomal dominant inheritance.
- vitreoretinal traction s. traction on the internal limiting membrane of the retina by adherent vitreous fibrils in vitreous humor detachment.
- Vogt-Koyanagi s. bilateral uveitis with iritis and glaucoma, premature graying of the hair, and alopecia, vitiligo, and dysacusia; related to Harada s. and sympathetic ophthalmia. SYN: oculocutaneous s., uveocutaneous s..
- Vohwinkel s. SYN: mutilating keratoderma.
- voice fatigue s. weakness and loss of the voice usually toward the end of the day because of abuse by using it too long and too loudly.
- von Hippel-Lindau s. [MIM*193300] a type of phacomatosis, consisting of retinal vascular malformations, which may be multiple and bilateral, associated with hemangioblastomas primarily of the cerebellum and walls of the fourth ventricle, occasionally involving the spinal cord; sometimes associated with renal cell carcinomas or cysts or hamartomas of kidney, adrenal, or other organs; autosomal dominant inheritance due to mutation in the von Hippel-Lindau gene (VHL) on 3p. SYN: cerebroretinal angiomatosis, Lindau disease.
- vulnerable child s. a reaction characterized by disturbance in psychosocial development, often occurring in children whose parents expect them to die prematurely.
- Waardenburg s. [MIM*193500, MIM*193510] disorder characterized by lateral displacement of inner canthi (dystopia canthorum), broad nasal root, heterochromia iridis, cochlear deafness, white forelock, and synophrys; autosomal dominant inheritance with type I distinguished from type II by the presence of dystopia canthorum. Type I is caused by mutation in the PAX3 gene on chromosome 2q while some cases of type II are caused by mutation in the microphthalmia-associated transcription factor gene (MITF) on chromosome 3p.
- Wagner s. SYN: hyaloideoretinal degeneration.
- Waldenström s. SYN: Waldenström macroglobulinemia.
- wasting s. 1. SYN: runting s.. 2. progressive involuntary weight loss seen in patients with HIV infection; may be due to a number of factors acting alone or in combination, including inadequate oral intake of food, altered metabolic state and/or malabsorption. Does not respond to increased caloric intake. Defined as profound involuntary weight loss of greater than 10% of baseline body weight, plus either chronic diarrhea (at least 2 loose stools per day for >30 days or chronic weakness and documented fever (for >30 days, intermittent or constant) in the absence of concurrent illness or condition other than HIV infection that could explain the findings (such as cancer, tuberculosis, cryptosporidiosis, or other specific enteritis). SYN: HIV wasting s..
- Waterhouse-Friderichsen s. a condition occurring mainly in children under 10 years of age, characterized by vomiting, diarrhea, extensive purpura, cyanosis, tonic-clonic convulsions, and circulatory collapse, usually with meningitis and hemorrhage into the adrenal glands. SYN: acute fulminating meningococcal septicemia, Friderichsen-Waterhouse s..
- WDHA s. SYN: Verner-Morrison s.. [watery diarrhea, hypokalemia, achlorhydria]
- Weber s. midbrain tegmentum lesion characterized by ipsilateral oculomotor nerve paresis and contralateral paralysis of the extremities, face, and tongue. SYN: Weber sign.
- Weber-Cockayne s. [MIM*131800] epidermolysis bullosa of the hands and feet; autosomal dominant inheritance, caused by mutation in the keratin 5 gene (KRT5) on chromosome 12q or keratin 14 gene (KRT14) on 17q.
- Weill-Marchesani s. [MIM*277600] ectopia lentis (lens abnormally round and small), short stature, and brachydactyly; autosomal recessive inheritance.
- Wells s. SYN: eosinophilic cellulitis.
- Werner s. [MIM*277700] a prematurely aging disorder consisting of scleroderma-like skin changes, bilateral juvenile cataracts, progeria, hypogonadism, and diabetes mellitus; autosomal recessive inheritance, caused by mutation in the WRN gene, which encodes a helicase protein on chromosome 8p.
- Wernicke s. a condition frequently encountered in chronic alcoholics, largely due to thiamin deficiency and characterized by disturbances in ocular motility, pupillary alterations, nystagmus, and ataxia with tremors; an organic-toxic psychosis is often an associated finding, and Korsakoff s. often coexists; characteristic cellular pathology found in several areas of the brain. SYN: superior hemorrhagic polioencephalitis, Wernicke disease, Wernicke encephalopathy.
- West s. an encephalopathy in infancy characterized by infantile spasms, arrest of psychomotor development, and hypsarrhythmia.
- Weyers-Thier s. SYN: oculovertebral dysplasia.
- whistling face s. SYN: craniocarpotarsal dystrophy.
- white-out s. a psychosis which occurs in Arctic explorers or others similarly exposed to the stimulus deprivation of a snow-clad environment. SEE ALSO: sensory deprivation.
- Wildervanck s. SYN: cervicooculoacoustic s..
- Williams s. [MIM*194050] disorder characterized by distinctive facies with shallow supraorbital ridges, medial eyebrow flare, stellate patterning of the irises, small nose with anteverted nares, malar hypoplasia with droopy cheeks, full lips, supravalvar aortic stenosis, neonatal hypocalcemia, mild mental retardation, and loquacious personality. Autosomal dominant inheritance; this is a contiguous gene deletion s. and one of the genes mutated is the elastin gene (ELN) on chromosome 7q. SYN: elfin facies s., supravalvar aortic stenosis-infantile hypercalcemia s., Williams-Beuren s..
- Williams-Beuren s. SYN: Williams s..
- Wiskott-Aldrich s. [MIM*301000] an immunodeficiency disorder occurring in male children and characterized by thrombocytopenia, eczema, melena, and susceptibility to recurrent bacterial infections; death occurs from severe hemorrhage or overwhelming infection; X-linked recessive inheritance, caused by mutation in the Wiskott-Aldrich s. gene (WASP) on chromosome Xp. SYN: Aldrich s..
- Wissler s. high intermittent fever, irregularly recurring macular and maculopapular eruption of the face, chest and limbs, leukocytosis, arthralgia, occasionally eosinophilia, and raised erythrocyte sedimentation rate; occurs in children and adolescents, with varying duration.
- withdrawal s. the development of a substance-specific s. that follows the cessation of, or reduction in, intake of a psychoactive substance that the person previously used regularly; e.g., clinical s. of disorientation, perceptual disturbance, and psychomotor agitation following the cessation of chronic use of excessive quantities of alcohol is termed alcohol withdrawal s.. The s. that develops varies according to the psychoactive substance used. Common symptoms include anxiety, restlessness, irritability, insomnia, and impaired attention. SEE ALSO: abstinence s..
- Wolff-Parkinson-White s. [MIM*194200] an electrocardiographic pattern sometimes associated with paroxysmal tachycardia; it consists of short PR interval (usually 0.1 second or less; occasionally normal) together with a prolonged QRS complex with a slurred initial component (delta wave). SYN: preexcitation s..
- Wolfram s. (DIDMOD) a s. consisting of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness; the genetic abnormality is located on chromosome 4p; autosomal recessive inheritance.
- Wright s. SYN: hyperabduction s..
- Wyburn-Mason s. arteriovenous malformation on the cerebral cortex, retinal arteriovenous malformation, and facial nevus, usually occurring in mentally retarded individuals. SYN: Bonnet-Dechaume-Blanc s..
- X-linked lymphoproliferative s. an X-linked recessive immunodeficiency and lymphoproliferative disease caused by mutation in the SH2 domain protein 1A gene (SH2D1A) on Xq; characterized by defective cellular or humoral immune response to Epstein-Barr virus; manifestations include fulminant infectious mononucleosis, B-cell malignancies, and hypogammaglobulinemia. SYN: Duncan disease, Duncan s., X-linked lymphoproliferative disease.
- XO s. SYN: Turner s..
- XXY s. SYN: Klinefelter s..
- XYY s. a chromosomal anomaly with chromosome count 47, with a supernumerary Y chromosome; controversial evidence associates tallness, aggressiveness, and acne with this condition.
- Zellweger s. a metabolic disorder with neonatal onset, characterized by distinctive facies, muscular hypotonia, hepatomegaly with jaundice, renal cysts, epiphyseal stippling of the patellae, cerebral dysmyelination, and neuronal migration defects and psychomotor retardation; there is a perturbation in peroxisomal biogenesis; autosomal recessive inheritance, caused by mutation in any one of several peroxin (PEX) genes on chromosome 6, 7, 8, or 12. SYN: cerebrohepatorenal s..
- Zieve s. transient jaundice, hemolytic anemia, and hyperlipemia associated with acute alcoholism in patients with cirrhosis or a fatty liver.
- Zivert s. SYN: Kartagener s..
- Zollinger-Ellison s. [MIM*131100] peptic ulceration with gastric hypersecretion and gastrinoma of the pancreas or duodenum, sometimes associated with familial multiple endocrine adenomatosis type 1.
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syn·drome 'sin-.drōmalso -drəm n a group of signs and symptoms that occur together and characterize a particular abnormality
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n.
a combination of signs and/or symptoms that forms a distinct clinical picture indicative of a particular disorder.
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syn·drome (sinґdrōm) [Gr. syndromē concurrence] a set of symptoms that occur together; the sum of signs of any morbid state; a symptom complex. In genetics, a pattern of multiple malformations thought to be pathogenetically related. See also disease.For terms not found here, see also under disease.
Medical dictionary. 2011.