MURCS association
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MURCS association (a variant of Mayer-Rokitansky-Küster-Hauser syndrome) is a very rare developmental disorder[1] that primarily affects the reproductive and urinary systems involving MUllerian agenesis, Renal agenesis, Cervicothoracic Somite abnormalities.[2] It affects only females.
Genetics[edit | edit source]
Genetic heterogeneity is observed in MURCS association.[3]
Cause[edit | edit source]
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.
Signs and symptoms[edit | edit source]
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).
Additional symptoms might include fused spinal bones in the neck and upper back and hearing loss. 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.
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Aplasia/hypoplasia of the uterus(Absent/small uterus)
- Azoospermia(Absent sperm in semen)
- Bicornuate uterus(Heart shaped uterus)
- Ectopic kidney(Abnormal kidney location)
- Low posterior hairline(Low hairline at back of neck)
- Renal agenesis(Absent kidney)
- Renal dysplasia
- Short neck(Decreased length of neck)
- Short stature(Decreased body height)
30%-79% of people have these symptoms
- Abnormality of the ribs(Rib abnormalities)
- Vertebral segmentation defect
5%-29% of people have these symptoms
- Hearing impairment(Deafness)
Diagnosis[edit | edit source]
This section is empty. You can help by adding to it. (August 2017) |
Treatment[edit | edit source]
Some reproductive abnormalities may benefit from surgery. Individuals with MURCS association do not typically have hormone dysfunction, so hormone therapy may not be beneficial.
Notes[edit | edit source]
- ↑ "MURCS association". Genetic and Rare Diseases Information Center (GARD). Retrieved 1 November 2013.
- ↑
- ↑
References[edit | edit source]
- "MURCS Association". National Organization for Rare Disorders, Inc. Archived from the original on 2013-11-03.
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External links[edit | edit source]
Classification | |
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External resources |
NIH genetic and rare disease info[edit source]
MURCS association is a rare disease.
MURCS association Resources | ||
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- Congenital disorders
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Contributors: Deepika vegiraju, Prab R. Tumpati, MD