Patients have short stature and mental
retardation. Syndrome involves head (cleft lip/palate, microcephaly,
hypertelorism, broad nose, bowed and upward-slanting eyebrows, and ptosis),
skeleton (hypoplastic stiff and distally placed thumbs, brachydactyly, limited elbow
extension, anomalous carpal bones, deformity of radial heads, toe anomalies,
and vertebral and rib anomalies). Other features include horseshoe kidneys,
micropenis, and anterior anal displacement. Laboratory investigations show
growth hormone deficiency.