Chondroectodermal dysplasia
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.
Disease Alternative Name
ellis-van creveld syndrome
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Recent Cases of Chondroectodermal dysplasia
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Top Chondroectodermal dysplasia Doctors on Curofy
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