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46,XX difference of sex development-anorectal anomalies syndrome

Disease definition

A rare developmental defect during embryogenesis characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.


Classification level: Disorder
  • Synonym(s):
    • 46,XX disorder of sex development-anorectal anomalies syndrome
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q56.2
  • ICD-11: LD2F.1Y
  • OMIM: -
  • UMLS: C4518078
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

General public

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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