Oculodentodigital Syndrome with Syndactyly Type III in a Pakistani consanguineous family

[摘要] Oculodentodigital syndrome (ODD; OMIM #164200) is a rare autosomal dominant disorder with pleiotropic effects. It is caused by mutation in gap junction protein α 1 (GJA1) gene which encodes connexion 43. ODD is characterised by symptoms i.e. craniofacial, neurologic, limb, ocular abnormalities, syndactyly type III of the hands, phalangeal abnormalities, diffuse skeletal dysplasia, enamel dysplasia, and hypotrichosis.

[学科分类] 皮肤病学

[关键词] diffuse skeletal dysplasia;GJA1 gene;Oculodentodigital Syndrome;Syndactyly Type III