/hypospadias-intellectual disability, Goldblatt type syndrome

hypospadias-intellectual disability, Goldblatt type syndrome

Rare Disease

MONDO:0009435

Also Known As

Goldblatt-Wallis syndromeGoldblatt Wallis syndromehypospadias intellectual deficit Goldblatt typehypospadias intellectual disability Goldblatt typehypospadias intellectual disability syndromehypospadias mental retardation Goldblatt typehypospadias mental retardation syndromehypospadias-intellectual disability syndromehypospadias-mental retardation syndrome

Definition

Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails.