MURCS association

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Disease Overview

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). [3240][3242] Additional symptoms might include fused spinal bones in the neck and upper back and hearing loss.[3242] 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.[3240][3242]


Synonyms

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

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National Organization for Rare Disorders