National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

MURCS association


Other Names:
Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies; Klippel-feil deformity, conductive deafness, and absent vagina
Categories:
MURCS association stands for (MU)llerian, (R)enal, (C)ervicothoracic (S)omite abnormalities and is a developmental disorder that primarily affects the reproductive and urinary systems.  Most individuals with MURCS association are female, although males can also have this condition.  Females with MURCS association can have an absent or abnormally shaped uterus. In rare cases, the vagina is also affected. Both males and females with MURCS association can have absent or abnormally formed reproductive tubes (usually the fallopian tubes in females and the vas deferens in males), kidney abnormalities, and short stature (adult height of less than 5 feet). [1][2] Additional symptoms might include fused spinal bones in the neck and upper back and hearing loss.[2] These symptoms may vary from person to person.  MURCS association is present at birth but may not be noticed until after puberty, especially when an affected female does not receive her first period.  This condition does not alter a person’s life expectancy.[1][2]
Last updated: 4/6/2011

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Aplasia/hypoplasia of the uterus
Absent/small uterus
Absent/underdeveloped uterus
[ more ] 		0008684
Azoospermia
Absent sperm in semen
0000027
Bicornuate uterus
Heart shaped uterus
Heart-shaped uterus
[ more ] 		0000813
Ectopic kidney
Abnormal kidney location
Displaced kidney
[ more ] 		0000086
Low posterior hairline
Low hairline at back of neck
0002162
Renal agenesis
Absent kidney
Missing kidney
[ more ] 		0000104
Renal dysplasia 0000110
Short neck
Decreased length of neck
0000470
Short stature
Decreased body height
Small stature
[ more ] 		0004322
30%-79% of people have these symptoms
Abnormality of the ribs
Rib abnormalities
0000772
Vertebral segmentation defect 0003422
5%-29% of people have these symptoms
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Percent of people who have these symptoms is not available through HPO
Abnormality of the vertebral column
Abnormal spine
Abnormal vertebral column
Abnormality of the spine
[ more ] 		0000925
Cerebellar cyst 0002350
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Conductive hearing impairment
Conductive deafness
Conductive hearing loss
[ more ] 		0000405
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] 		0000324
Hypoplasia of the uterus
Small uterus
Underdeveloped uterus
[ more ] 		0000013
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Sporadic
No previous family history
0003745
Sprengel anomaly
High shoulder blade
0000912
Unilateral renal agenesis
Absent kidney on one side
Missing one kidney
Single kidney
[ more ] 		0000122
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Last updated: 7/1/2020
The cause of MURCS association is not known. Most affected individuals have no history of the condition in their family. Symptoms of the condition develop during pregnancy but have not been linked to any known teratogens. [1][2]
Last updated: 4/6/2011
Some reproductive abnormalities may benefit from surgery. [3] Individuals with MURCS association do not typically have hormone dysfunction, so hormone therapy may not be beneficial. [4]
Last updated: 4/6/2011

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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 MURCS association. Click on the link to view a sample search on this topic.

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  1. Duncan PA, Shapiro LR, Stangel JJ, Klein RM, Addonizio JC. The MURCS association: Mullerian duct aplasia, renal aplasia. J Pediatrics. 1979; 95(3):399. http://www.ncbi.nlm.nih.gov/pubmed/469663. Accessed 4/6/2011.
  2. Mahajan P, Kher A, Khungar A, Bhat M, Sanklecha M, Bharucha BA. MURCS association--a review of 7 cases. J Postgrad Med. 1992; 38:109. http://www.ncbi.nlm.nih.gov/pubmed/1303407. Accessed 4/6/2011.
  3. Gunsar C, Genc A, Sencan A, Daglar Z, Alparslan O, Mir E. MURCS association and rectovestibular fistula: case report of a patient treated with one-stage posterior sagittal anorectoplasty and sigmoid loop vaginoplasty. J Pediatr Surg. 2003; 38(2):262. http://www.ncbi.nlm.nih.gov/pubmed/12596120. Accessed 4/6/2011.
  4. Kaissi AA, Chehida BF, Gachem BM, Grill F, Klaushofer K. Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association. Am. J. Med. Genet.. 2009; 149(A):470. http://www.ncbi.nlm.nih.gov/pubmed/19213024. Accessed 4/6/2011.