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MURCS association

Orpha number ORPHA2578
Synonym(s) Klippel-Feil deformity - conductive deafness - absent vagina
MRKH syndrome type 2
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Müllerian aplasia-renal aplasia-cervicothoracic somite dysplasia syndrome
Prevalence 1-9 / 100 000
Inheritance
  • Sporadic
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • Q87.8
OMIM
UMLS
  • C1832817
MeSH -
MedDRA -
SNOMED CT -

Summary

MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems.


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Detailed information

Summary information
Guidance for genetic testing
  • EN (2012,pdf)
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