Goldblatt-Wallis Syndrome

This syndrome was described in three South African brothers from the isolated Cape Malay community (Goldblatt et al. 1987; Hecht 1988). The common symptoms in all three brothers included mental retardation, hypospadias, hyperextensible joints, and beaked nails. The symptoms were all apparent since early infancy. To date, these three remain the only confirmed cases of Goldblatt-Wallis syndrome, and the estimated prevalence of the disease is presumed to be <1/1.000.000.