This disorder is limited to the skeleton and
results in short limbs with the arms longer than the legs. The abnormalities
are more severe distally: the humeri and femora are short but normally
shaped, whereas radius/ulna and tibia/fibula are short and deformed, the
carpal and tarsal bones and phalanges are rudimentary, and the metacarpals,
metatarsals, and patellae are hypoplastic or absent. The digits are
consequently very short with a globular appearance connected with a
soft-tissue bridge. Postaxial polydactyly and valgus deformity of hand and
foot are common. The metatarsal, talus, cuneiform, and navicular bones may
be fused. The axial skeleton is normal. An increased frequency of stillbirth
and neonatal death has been reported. No mental retardation.