" /> Ellis-Van Creveld Syndrome - CISMeF





Preferred Label : Ellis-Van Creveld Syndrome;

NCIt related terms : Chondroectodermal Dysplasia;

NCIt definition : A rare autosomal recessive syndrome caused by mutations in the EVC gene. It is characterized by dwarfism, small chest, ectodermal dysplasia, and postaxial polydactyly. There is an increased frequency of congenital heart malformations.;

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31/07/2025


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