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Oculodentodigital Dysplasia MeSH Supplementary Concept Data 2023

MeSH Supplementary
Oculodentodigital Dysplasia
Unique ID
RDF Unique Identifier
Entry Term(s)
ODD Syndrome
Oculo-Dento-Digital Dysplasia
Oculo-Dento-Osseous Dysplasia
Oculodentodigital Syndrome
Oculodentoosseous Dysplasia
Osseous-Oculo-Dental Dysplasia
Registry Number
Heading Mapped to
*Eye Abnormalities
*Foot Deformities, Congenital
*Tooth Abnormalities
*Craniofacial Abnormalities
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
Revision Date
Oculodentodigital Dysplasia Preferred
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