Definition of Ellis-van Creveld syndrome

Ellis-van Creveld syndrome: A type of short stature with striking shortening of the ends of the extremities (arms and legs), polydactyly (extra digits), fusion of bones in the wrist, dystrophy (abnormal growth) of the fingernails, change in the upper lip variously called 'partial hare-lip,' 'lip-tie,' etc., and cardiac (heart) malformations. The teeth may already be erupted at birth (natal teeth) and fall out prematurely.

The Ellis-van Creveld (EvC) syndrome was first described by Drs. Richard W. B. Ellis of Edinburgh and Simon van Creveld of Amsterdam. Each had a patient with this syndrome, as they had discovered when they met in the same train compartment on the way to a pediatrics conference in England in the late 1930s.

EvC is common in an inbred religious isolate, the Old Order Amish, in Lancaster County, Pennsylvania; this reflects the fact that the EvC syndrome is a rare autosomal recessive trait. The Amish gene for EvC, located in chromosome band 4p16.1, has been identified, permitting premarital and pre-natal counseling.

EvC has been found to be due to mutations in EVC or in another gene dubbed EVC2. These two genes lie in a head-to-head configuration on the same chromosome. Affected individuals with mutations in EVC and EVC2 have the typical spectrum of features and are indistinguishable.