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Mayer-Rokitansky-Küster-Hauser syndrome

Orpha number ORPHA3109
Synonym(s) MRKH syndrome
Rokitansky syndrome
Prevalence 1-5 / 10 000
Inheritance Not applicable
Autosomal dominant
Age of onset Childhood
ICD-10
  • Q51.8
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA
  • 10065148

Summary

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations.


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Detailed information

Summary information
Review article
  • EN (2007)
Clinical practice guidelines
  • FR (2012,pdf)
Guidance for genetic testing
  • EN (2011,pdf)
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