- acrofacial d. mandibulofacial d. associated with malformations of the extremities such as defective radius and thumbs, and radioulnar synostosis. SEE ALSO: Treacher Collins syndrome. SYN: acrofacial syndrome.
- cleidocranial d., clidocranial d. [MIM*119600] a developmental disorder characterized by absence or hypoplasia of clavicles, box-shaped skull with open sutures, frontal bossing, womian bones, ability to oppose shoulders, and missing teeth; autosomal dominant inheritance, caused by mutation in the transcription factor gene (CBFA1) encoding core-binding factor, runt domain, alpha-subunit 1 on 6p. There is an autosomal recessive form [MIM*216330]. SYN: cleidocranial dysplasia, clidocranial dysplasia, craniocleidodysostosis.
- craniofacial d. [MIM*123500] SYN: Crouzon syndrome.
- mandibuloacral d. [MIM*248370] an autosomal recessive disorder characterized by hypoplastic mandible, dental crowding, acro-osteolysis, stiff joints, and atrophy of the skin of the hands and feet; clavicles are hypoplastic, cranial sutures are wide, and multiple wormian bones are present.
- mandibulofacial d. a variable syndrome of malformations primarily of derivatives of the first branchial arch; characterized by palpebral fissures sloping outward and downward with notches or colobomas in the outer third of the lower lids, bony defects or hypoplasia of malar bones and zygoma, hypoplasia of the mandible, macrostomia with high or cleft palate and malposition and malocclusion of teeth, low-set malformed external ears, atypical hair growth, and occasional pits or clefts between mouth and ear. SEE ALSO: Treacher Collins syndrome. SYN: mandibulofacial dysotosis syndrome, mandibulofacial dysplasia.
- metaphysial d. a rare developmental abnormality of the skeleton in which metaphyses of tubular bones are expanded by deposits of cartilage.
- d. multiplex specific pattern of radiographic changes observed in many lysosomal storage disorders.
- orodigitofacial d. SYN: orofaciodigital syndrome.
- otomandibular d. hypoplasia of the mandible, often with malformation of the temporomandibular joint, associated with malformations of the ear but not eye malformations or malar defects. SYN: otomandibular syndrome.
- peripheral d. [MIM*170700] d. of the metacarpals and metatarsals, accompanied by variable facial features; possibly autosomal dominant inheritance.
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dys·os·tot·ic -'tät-ik adj
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n.
the abnormal formation of bone or the formation of bone in abnormal places, such as a replacement of cartilage by bone.
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dys·os·to·sis (dis″os-toґsis) [dys- + ostosis] defective ossification; defect in the normal ossification of fetal cartilages.Medical dictionary. 2011.