ELLIS-VAN CREVELD SYNDROME
Introduction and Historical Context Ellis-Van Creveld syndrome, often abbreviated as EVC, is a rare genetic disorder characterized primarily by a constellation of skeletal anomalies, ectodermal dysplasia, and frequently, congenital heart defects. It is classified as an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene—one from each parent—to be […]