Ellis-van Creveld syndrome

Definition:

Ellis-van Creveld syndrome (EVC) is an autosomal recessive disorder of bone growth. Individuals with this condition have short ribs, postaxial polydactyly, and dysplastic teeth and nails. Congenital cardiovascular malformations are seen in 60% of the cases. Loss-of-function mutations in EVC1 or EVC2 genes and resulting hedgehog signaling defects are causative of this disease.

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