MURCS association: Difference between revisions
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{{Infobox medical condition | |||
| name = MURCS association | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = MURCS association is often inherited in an [[autosomal dominant]] pattern | |||
| synonyms = Müllerian duct aplasia, renal aplasia, cervicothoracic somite dysplasia | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Müllerian agenesis]], [[renal agenesis]], [[cervicothoracic somite dysplasia]] | |||
| complications = [[Infertility]], [[kidney problems]], [[skeletal abnormalities]] | |||
| onset = Congenital | |||
| duration = Lifelong | |||
| causes = Genetic mutations | |||
| risks = Family history of similar conditions | |||
| diagnosis = [[Clinical examination]], [[imaging studies]], [[genetic testing]] | |||
| differential = [[Mayer-Rokitansky-Küster-Hauser syndrome]], [[Kallmann syndrome]] | |||
| treatment = [[Hormone replacement therapy]], [[surgical intervention]] | |||
| prognosis = Variable, depending on associated anomalies | |||
| frequency = Rare | |||
}} | |||
{{Short description|A rare congenital disorder affecting the reproductive and skeletal systems}} | {{Short description|A rare congenital disorder affecting the reproductive and skeletal systems}} | ||
'''MURCS association''' is a rare congenital disorder characterized by a combination of [[Müllerian duct]] aplasia, [[renal agenesis]], and [[cervicothoracic somite dysplasia]]. It is considered a form of [[Mayer-Rokitansky-Küster-Hauser syndrome]] (MRKH), specifically type II, which involves additional anomalies beyond the reproductive system. | '''MURCS association''' is a rare congenital disorder characterized by a combination of [[Müllerian duct]] aplasia, [[renal agenesis]], and [[cervicothoracic somite dysplasia]]. It is considered a form of [[Mayer-Rokitansky-Küster-Hauser syndrome]] (MRKH), specifically type II, which involves additional anomalies beyond the reproductive system. | ||
==Etiology== | ==Etiology== | ||
The exact cause of MURCS association is not well understood, but it is believed to have a genetic component. The condition is often sporadic, but there have been cases suggesting an [[autosomal dominant]] pattern of inheritance, as depicted in the diagram. | The exact cause of MURCS association is not well understood, but it is believed to have a genetic component. The condition is often sporadic, but there have been cases suggesting an [[autosomal dominant]] pattern of inheritance, as depicted in the diagram. | ||
==Clinical Features== | ==Clinical Features== | ||
Patients with MURCS association typically present with: | Patients with MURCS association typically present with: | ||
* [[Müllerian agenesis]]: Absence or underdevelopment of the uterus and upper two-thirds of the vagina. | * [[Müllerian agenesis]]: Absence or underdevelopment of the uterus and upper two-thirds of the vagina. | ||
* [[Renal agenesis]] or ectopia: One or both kidneys may be absent or located in an abnormal position. | * [[Renal agenesis]] or ectopia: One or both kidneys may be absent or located in an abnormal position. | ||
* [[Cervicothoracic somite dysplasia]]: Abnormalities in the vertebrae and ribs, which may lead to scoliosis or other spinal deformities. | * [[Cervicothoracic somite dysplasia]]: Abnormalities in the vertebrae and ribs, which may lead to scoliosis or other spinal deformities. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of MURCS association is based on clinical evaluation and imaging studies. [[Ultrasound]] and [[MRI]] are commonly used to assess the reproductive and renal systems, while [[X-ray]] or [[CT scan]] may be used to evaluate skeletal anomalies. | Diagnosis of MURCS association is based on clinical evaluation and imaging studies. [[Ultrasound]] and [[MRI]] are commonly used to assess the reproductive and renal systems, while [[X-ray]] or [[CT scan]] may be used to evaluate skeletal anomalies. | ||
==Management== | ==Management== | ||
Management of MURCS association is multidisciplinary, involving gynecologists, nephrologists, and orthopedic specialists. Treatment is symptomatic and supportive, focusing on: | Management of MURCS association is multidisciplinary, involving gynecologists, nephrologists, and orthopedic specialists. Treatment is symptomatic and supportive, focusing on: | ||
* Surgical correction of vaginal agenesis, if necessary, to allow for normal sexual function. | * Surgical correction of vaginal agenesis, if necessary, to allow for normal sexual function. | ||
* Monitoring and management of renal function. | * Monitoring and management of renal function. | ||
* Orthopedic interventions for skeletal abnormalities. | * Orthopedic interventions for skeletal abnormalities. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with MURCS association varies depending on the severity of the renal and skeletal anomalies. With appropriate management, many patients can lead normal lives. | The prognosis for individuals with MURCS association varies depending on the severity of the renal and skeletal anomalies. With appropriate management, many patients can lead normal lives. | ||
==See also== | |||
== | |||
* [[Mayer-Rokitansky-Küster-Hauser syndrome]] | * [[Mayer-Rokitansky-Küster-Hauser syndrome]] | ||
* [[Müllerian duct anomalies]] | * [[Müllerian duct anomalies]] | ||
* [[Renal agenesis]] | * [[Renal agenesis]] | ||
* [[Skeletal dysplasia]] | * [[Skeletal dysplasia]] | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 00:42, 9 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| MURCS association | |
|---|---|
| |
| Synonyms | Müllerian duct aplasia, renal aplasia, cervicothoracic somite dysplasia |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Müllerian agenesis, renal agenesis, cervicothoracic somite dysplasia |
| Complications | Infertility, kidney problems, skeletal abnormalities |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutations |
| Risks | Family history of similar conditions |
| Diagnosis | Clinical examination, imaging studies, genetic testing |
| Differential diagnosis | Mayer-Rokitansky-Küster-Hauser syndrome, Kallmann syndrome |
| Prevention | N/A |
| Treatment | Hormone replacement therapy, surgical intervention |
| Medication | N/A |
| Prognosis | Variable, depending on associated anomalies |
| Frequency | Rare |
| Deaths | N/A |
A rare congenital disorder affecting the reproductive and skeletal systems
MURCS association is a rare congenital disorder characterized by a combination of Müllerian duct aplasia, renal agenesis, and cervicothoracic somite dysplasia. It is considered a form of Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), specifically type II, which involves additional anomalies beyond the reproductive system.
Etiology[edit]
The exact cause of MURCS association is not well understood, but it is believed to have a genetic component. The condition is often sporadic, but there have been cases suggesting an autosomal dominant pattern of inheritance, as depicted in the diagram.
Clinical Features[edit]
Patients with MURCS association typically present with:
- Müllerian agenesis: Absence or underdevelopment of the uterus and upper two-thirds of the vagina.
- Renal agenesis or ectopia: One or both kidneys may be absent or located in an abnormal position.
- Cervicothoracic somite dysplasia: Abnormalities in the vertebrae and ribs, which may lead to scoliosis or other spinal deformities.
Diagnosis[edit]
Diagnosis of MURCS association is based on clinical evaluation and imaging studies. Ultrasound and MRI are commonly used to assess the reproductive and renal systems, while X-ray or CT scan may be used to evaluate skeletal anomalies.
Management[edit]
Management of MURCS association is multidisciplinary, involving gynecologists, nephrologists, and orthopedic specialists. Treatment is symptomatic and supportive, focusing on:
- Surgical correction of vaginal agenesis, if necessary, to allow for normal sexual function.
- Monitoring and management of renal function.
- Orthopedic interventions for skeletal abnormalities.
Prognosis[edit]
The prognosis for individuals with MURCS association varies depending on the severity of the renal and skeletal anomalies. With appropriate management, many patients can lead normal lives.
