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chondroectodermal dysplasia


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

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.