Ellis-Van Creveld syndrome (chondroectodermal dysplasia) is a rare autosomal recessive syndrome characterized by short stature, limbs, and ribs. Typically presents with chondrodysplasia, teeth abnormalities, ectodermal dysplasia, polydactyly, nail dysplasia, sparse hair, and 50%-60% of patients have a congenital heart defect. Cognition is normal. Caused by a defect in the EVC gene. Occurs more frequently in the Pennsylvanian Old Order Amish or within indigenous Australian communities. Can be detected in utero by ultrasound. Treatment is symptomatic and typically requires early dental intervention. Potentially life-threatening complications include respiratory distress and heart failure.