Orphanet: High anorectal malformation

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High anorectal malformation

Disease definition

High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence.


  • Synonym(s): -
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q42.0  Q42.1
  • OMIM: -
  • UMLS: C0345210
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Article for general public

Additional information

Further information on this disease

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