Hypospadias-Mental Retardation Syndrome

In a socially and religiously isolated Cape Malay community in South Africa, Goldblatt et al. (1987) described 3 brothers with hypospadias and mental retardation in association with microcephaly, craniofacial dysmorphism, joint laxity, and beaked nails. One of the brothers had trigonocephaly. Although there was no known close consanguinity, the social isolation suggested that such might exist.