Orphanet: Mayer Rokitansky Küster Hauser syndrome type 1

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Mayer-Rokitansky-Küster-Hauser syndrome type 1

Disease definition

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome (see this term), is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.


Classification level: Subtype of disorder
  • Synonym(s):
    • Congenital absence of uterus and vagina
    • MRKH syndrome type 1
    • Rokitansky sequence
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Antenatal, Adolescent
  • ICD-10: Q51.8
  • OMIM: 277000
  • UMLS: C0431648
  • MeSH: -
  • GARD: 4737
  • MedDRA: -

Detailed information


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