Patients have premature aging aspect, short
stature and a poorly muscled build. Clinical features can involve the central nervous system (CNS)
(psychomotor development deficiency, hypotonia, truncal ataxia, intention
tremor, and nystagmus), head and neck (pseudohydrocephaly and apparent macrocephaly,
small face, prognathism, micrognathia, microstoma, low-set ears, high
forehead, decreased eyebrows, sparse hair, sparse eyebrows, sparse
eyelashes, prominent scalp veins, entropion, greatly widened anterior
fontanelles, malar hypoplasia, natal teeth, and beaking of the nose). Other
possible features include congenital heart defect, dysphagia, urinary
reflux, generalized lipoatrophy, abnormally placed nipples, arachnodactyly,
and restricted joint mobility.