oculodentodigital dysplasia
- oculodentodigital dysplasia
- (ODDD), oculodento-osseous dysplasia (ODOD) a rare hereditary condition caused by mutations in the GJA1 gene (locus: 6q21-q23.2), which encodes connexin 43, characterized by bilateral microphthalmos, abnormally small nose with anteverted nostrils, hypotrichosis, dental anomalies, camptodactyly, syndactyly, and missing phalanges of the toes. Inheritance is mainly autosomal dominant, but a rare autosomal recessive form also exists. Called also Meyer-Schwickerath and Weyers syndrome, oculodentodigital or oculodento-osseous syndrome, and ODD syndrome.
Medical dictionary.
2011.
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Oculodentodigital dysplasia — Classification and external resources OMIM 164200 DiseasesDB 32980 Oculodentodigital syndrome (ODD syndrome) is an extremely rare genetic conditio … Wikipedia
Oculodentodigital syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD9 = ICDO = OMIM = 164200 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Oculodentodigital syndrome (ODD syndrome) is an extremely rare genetic condition that typically… … Wikipedia
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oculodentodigital syndrome — oculodento osseous syndrome see under dysplasia … Medical dictionary
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displasia oculodentodigital — Eng. Oculodentodigital dysplasia Síndrome que cursa con microdontia, sindactilia bilateral y nariz pequeña asociándose múltiples anomalías a nivel ocular, siendo las más frecuentes el glaucoma y las alteraciones corneales. Síndrome de Meyer… … Diccionario de oftalmología
ODDD — oculodentodigital dysplasia … Medical dictionary
Meyer-Schwickerath and Weyers syndrome — oculodentodigital dysplasia … Medical dictionary
ODD syndrome — oculodentodigital dysplasia … Medical dictionary
