Features include characteristic facies (dolichocephaly/scaphocephaly,
short neck, prominent occiput, triangular face, short midface, low-set ears,
broad nasal root, bulbous nose, long eyelashes, enophthalmos, thickened
gingivae, narrow palate), limbs anomalies (brachydactyly, delayed bone age, joint
dislocation, restricted joint mobility, clinodactyly of toes, clinodactyly
of fifth finger), genitourinary signs (micropenis, urethral anomalies), and short stature.
Difficult feeding in infancy, mental retardation, and speech defect are
common. Cardiac septal defect and celiac disease may be associated.