Ellis-van Creveld Syndrome

Clinical presentation in a 12 year old boy.

Chondrodystrophy (the most common feature affecting the tubular bones)

Disproportionate dwarfism (small stature of prenatal onset; average adult height, 109-155 cm)

Progressive distal limb shortening, symmetrically affecting the forearms and lower legs

Polydactyly (constant findings)

Bilateral and postaxial

Polydactyly, observed in the hands in most cases but in the feet in 10% of cases