This condition consists of a number of developmental anomalies which include short stature, skeletal and dental abnormalities. Cardiac defects occur in about half of those affected.
Extra fingers are present and occasionally extra toes.
Additional abnormalities may include learning difficulties, scant or fine hair, cryptorchidism, epispadias, talipes and renal agenesis. Potential stature is in the range 90 cm to 155 cm. Inheritance patterns Autosomal recessive. The gene for Ellis-Van Creveld Syndrome has now been identified and lies on chromosome 4. An ultrasound scan is available after 16 weeks which may identify extra digits.