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Mayer-Rokitansky-Küster-Hauser syndrome

Disease definition

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations) (see these terms).

ORPHA:3109

  • Synonym(s):
    • MRKH syndrome
    • Rokitansky syndrome
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Antenatal, Adolescent
  • ICD-10: Q51.8
  • OMIM: 277000  601076
  • UMLS: C1698581
  • MeSH: -
  • GARD: 5445
  • MedDRA: 10065148

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