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
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. 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. 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.Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that mainly affects the
Last updated: 4/15/2015
- Mayer-Rokitansky-Küster-Hauser syndrome. Genetics Home Reference. March, 2015; http://ghr.nlm.nih.gov/condition/mayer-rokitansky-kuster-hauser-syndrome.
- 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.
- 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.