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Diseases

Genetic and Rare Diseases Information Center (GARD)

Mayer-Rokitansky-Kuster-Hauser syndrome


Other Names for this Disease
  • RKH syndrome
  • Von Mayer Rokitansky Kuster anomaly
  • Mayer Rokitansky Kuster Hauser syndrome
  • Congenital absence of the uterus and vagina
  • Uterus bipartitus solidus rudimentarius cum vagina solida
Related Diseases
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Overview

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that mainly affects the female reproductive system, causing the vagina and uterus to be underdeveloped or absent. External genitalia and breast development is normal, and ovaries are usually present and functional. Other features may include kidney and/or skeletal abnormalities, hearing loss, and/or heart defects.[1] There are 2 types of MRKH which are distinguished based on whether additional features are present. In Type I, there is only absence of part of the vagina. In type II, abnormalities of the spine, heart, kidneys, and/or ears are also present.[2] The exact cause of MRKH syndrome is unknown but it is thought to result from a combination of genetic and environmental factors. Most cases occur randomly, but some cases run in families. Some familial cases appear to be inherited in an autosomal dominant manner. Although women with MRKH syndrome usually are unable to carry a pregnancy, they may be able to have children with assisted reproduction.[1]
Last updated: 4/15/2015

References

  1. Mayer-Rokitansky-Küster-Hauser syndrome. Genetics Home Reference. March, 2015; http://ghr.nlm.nih.gov/condition/mayer-rokitansky-kuster-hauser-syndrome.
  2. Mayer-Rokitansky-Küster-Hauser syndrome. Orphanet. January, 2015; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3109. Accessed 10/1/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Mayer-Rokitansky-Kuster-Hauser syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Mayer-Rokitansky-Kuster-Hauser syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • RKH syndrome
  • Von Mayer Rokitansky Kuster anomaly
  • Mayer Rokitansky Kuster Hauser syndrome
  • Congenital absence of the uterus and vagina
  • Uterus bipartitus solidus rudimentarius cum vagina solida
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.