Cataract - deafness - hypogonadism

Summary

This syndrome is characterised by the association of mild intellectual deficit, congenital cataract, sensorineural deafness, hypogonadism (small testes with sparse pubic hair), hypertrichosis, and short stature. It has been reported only once in three brothers of Iranian origin, born to young healthy parents. Although X-linked recessive inheritance cannot be fully excluded, autosomal recessive inheritance was favoured because of parental consanguinity. *Author: Orphanet (December 2004)*.