Orphanet: Hypospadias intellectual disability, Goldblatt type syndrome

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Hypospadias-intellectual disability, Goldblatt type syndrome

Disease definition

Hypospasdias – 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.


Classification level: Disorder
  • Synonym(s):
    • Goldblatt-Wallis syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q87.8
  • OMIM: 241760
  • UMLS: -
  • MeSH: -
  • GARD: 2928
  • MedDRA: -

Detailed information


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