Ellis van creveld syndrome

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
chondroectodermal dysplasia
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Maharashtra University of Health Sciences Nashik

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Sri Venkateswara Institute of Medical Sciences

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