Ellis – van Creveld Syndrome

People with Ellis – van Creveld Syndrome have particularly short forearms and lower legs and a narrow chest with short ribs. Changes in the EVC and EVC2 genes cause Ellis-van Creveld syndrome. Researchers have not determined the functions of these genes, but they have identified mutations in both genes that can cause Ellis-van Creveld syndrome. This occurs in approximately 1 in every 60,000 – 200,000 births, though is much more common in some populations.