Contributor: Gordon K. Klintworth
Ellis-van Creveld syndrome (chondroectodermal dysplasia, mesoectodermal dysplasia, OMIM #225500) an inherited autosomal recessive syndrome caused by mutations in the EVC and EVC2 genes. The condition, which was described by Richard W.B. Ellis (1902-1966) of Edinburgh and Simon van Creveld (1895-1971), is characterized predominantly by dysplasia of the skeletal system [dysplasia - skeleton]. The abnormalities in this variety of dwarfism involves the rib cage (short ribs), limbs (short limbs, postaxial polydactyly), pelvis, and teeth. A peculiar upper lip and nail dysplasia [dysplasia - nail] is present. The heart is the main affected visceral organ and a common atrium is the most common finding in the congenital heart disease. The differential diagnosis includes Jeune syndrome.