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skos:definition |
NCI: An autosomal dominant genetic disorder caused by mutations in the GLI3 gene. It is characterized by physical abnormalities of the fingers and/or toes (extra fingers and/ or toes, fusion of the fingers and/or toes), large size head with prominent forehead and hypertelorism.,JABL: A syndrome of digital malformations and cranial dysmorphism, consisting of postaxial polydactyly, preaxial polysyndactyly, and peculiar shape of the skull characterized by a large cranial vault with prominent forehead, high bregma, and hypertelorism. Occasional growth and usually mild mental retardation. Some phenotypic features are similar to those in the Schinzel syndrome I.
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