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Genetic and Rare Diseases Information Center (GARD)

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Mayer-Rokitansky-Kuster-Hauser syndrome


Other Names for this Disease

  • CAUV
  • Congenital absence of the uterus and vagina
  • Genital renal ear syndrome
  • GRES syndrome
  • Mayer Rokitansky Kuster Hauser syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that mainly affects the female reproductive system. This condition causes the vagina and uterus to be underdeveloped or absent. Ovaries are usually present and functional. Additional features may include kidney and/or skeletal abnormalities. While the cause of MRKH syndrome is unknown, it likely results from a combination of genetic and environmental factors. Most cases occur in women with no history of the disorder in their family. Less often, the condition is passed through generations in a family. Some of these cases appear to be inherited in an autosomal dominant fashion. Although women with this condition are usually unable to carry a pregnancy, they may be able to have children through assisted reproduction.[1]
Last updated: 6/14/2011

References

  1. Mayer-Rokitansky-Küster-Hauser syndrome. Genetics Home Reference (GHR). May 2010; http://ghr.nlm.nih.gov/condition/mayer-rokitansky-kuster-hauser-syndrome. Accessed 6/13/2011.
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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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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
  • CAUV
  • Congenital absence of the uterus and vagina
  • Genital renal ear syndrome
  • GRES syndrome
  • Mayer Rokitansky Kuster Hauser syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.