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Genetic and Rare Diseases Information Center (GARD)

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MURCS association


Other Names for this Disease

  • Klippel-feil deformity, conductive deafness, and absent vagina
  • Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies
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What is MURCS association?

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

What causes MURCS association?

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

How might MURCS association be treated?

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

References
  • 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.
  • 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.
  • 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.
  • 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.
Other Names for this Disease
  • Klippel-feil deformity, conductive deafness, and absent vagina
  • Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.