Ellis—van Creveld Syndrome

Abstract

Ellis—van Creveld syndrome is a rare, singlegene genetic congenital skeletal disorder. It is an autosomal recessive inherited disorder, which means that both parents must carry the gene for the child to be affected. It involves abnormalities of multiple body systems, including teeth, nails, hair, lungs, and liver, and approximately 50% of affected patients will have major heart defects. There is short-limbed dwarfism, with the extremities being disproportionate with the trunk, this being more apparent in the lower limbs. Postaxial polydactyly, or extra digits in the hands, is seen in virtually 100% of those individuals affected with Ellis—van Creveld. Despite the advances in sonography, the prenatal diagnosis of a specific skeletal dysplasia remains very difficult and often can only be made after birth or termination of the pregnancy.