Mesomelic short stature, shorts limbs with severe
skeletal changes in the ankles, knees, and elbows, progressive curvature of
the forearm, microretrognathia, beaked nose, transverse agenesis of soft
palate, nasal speech, down-slanting of palpebral fissures with hypertelorism
and ptosis. Hydronephrosis and mild vertebral anomalies. At birth, is
associated with short umbilical cord having unusually long skin coverage.