Hypospadias-intellectual disability, Goldblatt type syndrome
ORPHA:2261· ICD-10 Q87.8
Definition
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 microcephaly, craniofacial dysmorphism, joint laxity and beaked nails.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal