Ellis-van Creveld syndrome eMedicine

Description: Synonyms and related keywords: Ellis-van Creveld syndrome, EVC syndrome, chondroectodermal dysplasia, disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, common atrium, small chest, congenital heart defects
Author: Harold Chen, MD, MS, FAAP, FACMG, Chief, Professor, Department of Pediatrics, Section of Perinatal Genetics, Louisiana State University Medical Center
Coauthor: Ayala Laufer-Cahana, MD, Fellow, Department of Pediatrics, Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia
In 1940, Ellis and van Creveld formally described the syndrome that would bear their names, although they termed it chondroectodermal dysplasia. Disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, a small chest, and a high frequency of congenital heart defects characterize this autosomal recessive syndrome, which has increased incidence among persons of Old Order Amish descent.