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
Always consult your healthcare provider to ensure the information displayed on this page applies to your personal circumstances.
© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.