Cataract-Ataxia-Deafness-Retardation Syndrome

Begeer et al. (1991) described 2 sisters in their 50s who had mild mental retardation from birth and were born with congenital cataract for which surgery had been performed. Both sisters had onset of progressive sensorineural deafness in the third decade. They were of short stature (height, 1.55 m and 1.52 m). Ataxia, attributed mainly to impairment of the proprioceptive system, was present in both. Other signs of polyneuropathy included absent deep tendon reflexes and diminished sensation distally. Begeer et al. (1991) concluded that this syndrome is distinct from the ataxia-deafness-retardation syndrome (ADR syndrome; 208850) because of the presence of congenital cataract and the later onset of hearing loss and ataxia, which start in infancy in the ADR syndrome.