MURCS association

A rare congenital disorder affecting the reproductive and skeletal systems

Overview

Diagram of autosomal dominant inheritance

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.

Related pages

• Mayer-Rokitansky-Küster-Hauser syndrome
• Müllerian duct anomalies
• Renal agenesis
• Skeletal dysplasia