MeSH Browser

MeSH Supplementary: Oculodentodigital Dysplasia
Unique ID: C563160
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C563160
Entry Term(s): ODD Syndrome; Oculo-Dento-Digital Dysplasia; Oculo-Dento-Osseous Dysplasia; Oculodentodigital Syndrome; Oculodentoosseous Dysplasia; Osseous-Oculo-Dental Dysplasia
Heading Mapped to: *Eye Abnormalities; *Foot Deformities, Congenital; *Syndactyly; *Tooth Abnormalities; *Craniofacial Abnormalities
Frequency: 61
Note: A rare hereditary autosomal dominant condition that affects multiple parts of the body; particularly the face, eyes, teeth, and extremities. Affected individuals often have small eyes (MICROPHTHALMIA), small or missing teeth, weak enamel, multiple cavities, and early tooth loss. Other common features include a thin nose and SYNDACTYLY between the fourth and fifth fingers. HYPOTRICHOSIS, syndactyly of the toes, curvature of fingers, MICROCEPHALY, and CLEFT PALATE may also occur but are less common. Some patients may also experience ATAXIA, MUSCLE SPASTICITY, hearing loss, and speech difficulties. Mutations in the GJA1 gene have been identified. OMIM: 164200
Date of Entry: 2012/11/05
Revision Date: 2015/08/18

Oculodentodigital Dysplasia MeSH Supplementary Concept Data 2024