Clinical features

The clinical features associated with this syndrome are severe mental retardation with mild somatic features which include moderately severe claw hand, mild dwarfism, hypertrichosis, hearing loss, mild hepatosplenomegaly, biconvex dorsolumbar vertebrae, and mild joint stiffness. Common behavioural problems are restlessness, destructiveness, aggression, and in up to two-thirds of cases sleep problems. The prognosis of this condition is poor and many die of chest infection by the age of 10 to 20 years.

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