- 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.
* * *El·lis-van Crev·eld syndrome (elґis vahn kreґveld) [Richard White Bernhard Ellis, Scottish pediatrician, 1902â€“1966; Simon van Creveld, Dutch pediatrician, 1894â€“1971] see chondroectodermal dysplasia, under dysplasia.
Medical dictionary. 2011.