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Mayer-Rokitansky-Küster-Hauser syndrome type 2

Disease definition

A form of Mayer-Rokitansky-Küster-Hauser syndrome, characterized by congenital aplasia of the uterus and upper two-thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects.


Classification level: Subtype of disorder
  • Synonym(s):
    • Atypical MRKH syndrome
    • MRKH syndrome type 2
    • MURCS association
    • Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Neonatal, Antenatal, Adolescent
  • ICD-10: Q87.8
  • OMIM: 601076
  • UMLS: C1832817
  • MeSH: -
  • GARD: 5513
  • MedDRA: -

Detailed information


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