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Diseases

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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Treatment


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How might MURCS association be treated?

Some reproductive abnormalities may benefit from surgery. [1] Individuals with MURCS association do not typically have hormone dysfunction, so hormone therapy may not be beneficial. [2]
Last updated: 4/6/2011

References
  1. 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.
  2. 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.


Clinical Trials & Research for this Disease

  • 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.