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Posterior hypospadias

Disease definition

A rare, non-syndromic, congenital, urogenital tract malformation affecting males and characterized by penoscrotal, scrotal or perineal displacement of the urethral meatus, and commonly associated with curvation of the penis. The scrotum might appear bifid in severe cases, and the boy can also have a micropenis.

ORPHA:95706

Classification level: Disorder
  • Synonym(s):
    • Hypospadias, severe form
    • Perineal, scrotal or penoscrotal hypospadias
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q54.2  Q54.3
  • OMIM: 146450  300633  300758  300856
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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