Skip to Content

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

Disclaimer: This site is designed to offer information for general educational purposes only. The health information furnished on this site and the interactive responses are not intended to be professional advice and are not intended to replace personal consultation with a qualified physician, pharmacist, or other healthcare professional. You must always seek the advice of a professional for questions related to a disease, disease symptoms, and appropriate therapeutic treatments.
© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
Hide