Features include malformations of the face
(partial mandibular absence, narrow forehead, low hair line) and limbs
(small feet and hands, terminal hypoplasia of the toes and fingers, small or
absent toenails and fingernails) in combination with neurologic anomalies
(severe mental retardation, seizures, generalized hypotonia). Intrauterine
growth retardation and postnatal growth failure resulting in short stature
have been reported.