Intellectual Disability-Cataracts-Kyphosis Syndrome

This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence.

Epidemiology

The syndrome has been described in three siblings.

Clinical description

The two brothers also presented with iris coloboma. Other clinical findings include contractures of large joints, bulbous nose with broad nasal bridge, and thick lips.

Etiology

The disease is linked to the pericentromeric region of chromosome 4.

Genetic counseling

Transmission is autosomal recessive.