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Definition: triad of chondrodysplasia, ectodermal dysplasia, and polydactyly, with congenital heart defects in over half of patients; autosomal recessive inheritance; caused by a mutation in the EU gene on 4p. Maps to human chromosome 4p16.
Synonym(s): Ellis-van Creveld syndrome
Examples: glitazone, GI cocktail, etc.
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