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Low anorectal malformation

Disease definition

Low 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 lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation.

ORPHA:171215

  • Synonym(s): -
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q42.2  Q42.3
  • OMIM: -
  • UMLS: C0345218
  • MeSH: -
  • GARD: -
  • MedDRA: -

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