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Mayer-Rokitansky-Küster-Hauser syndrome type 2

Disease definition

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome (see this term), is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MÜllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.

ORPHA:2578

  • 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: Antenatal, Adolescent
  • ICD-10: Q87.8
  • OMIM: 601076
  • UMLS: C1832817
  • MeSH: -
  • GARD: 5513
  • MedDRA: -

Detailed information

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