Ellis-van Creveld syndrome

Ellis–van Creveld Syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia) is a rare genetic disorder of the skeletal dysplasia type. It involves numerous anomalies including post-axial polydactyly, congenital heart defects (most commonly an atrial septal defect producing a common atrium, occurring in 60% of affected individuals), pre-natal tooth eruption, fingernail dysplasia, short-limbed dwarfism, short ribs, cleft palate, and malformation of the wrist bones (fusion of the hamate and capitate bones). Ellis–van Creveld syndrome often is the result of founder effects in isolated human populations, such as the Amish and some small island inhabitants. Although relatively rare, this disorder does occur with higher...