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
Registry Number: 0
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

Concept UI: M0563460
Registry Number: 0
Terms: Oculodentodigital Dysplasia Preferred Term
Term UI T802317
Date11/15/2011
LexicalTag NON
ThesaurusID; ODD Syndrome
Term UI T825120
Date06/27/2012
LexicalTag NON
ThesaurusID; Osseous-Oculo-Dental Dysplasia
Term UI T842181
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Oculo-Dento-Osseous Dysplasia
Term UI T842179
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Oculodentodigital Syndrome
Term UI T842180
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Oculodentoosseous Dysplasia
Term UI T802318
Date11/15/2011
LexicalTag NON
ThesaurusID; Oculo-Dento-Digital Dysplasia
Term UI T842178
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014)

Oculodentodigital Dysplasia MeSH Supplementary Concept Data 2023