Ellis-Van Creveld Syndrome

**Semantic type:** Disease or Syndrome

**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.

**Synonyms:** - Chondroectodermal Dysplasia - Chondroectodermal Dysplasia