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}} | ||
== | == Introduction == | ||
'''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]] | ||
Revision as of 03:55, 8 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
Introduction
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
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
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
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 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
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.
