Multicentric carpotarsal osteolysis syndrome

Autosomal dominant - en

Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare genetic disorder characterized by progressive osteolysis, particularly affecting the carpal and tarsal bones. This condition often leads to severe joint deformities and functional impairment.

Presentation

MCTO typically presents in early childhood with symptoms including pain, swelling, and progressive loss of function in the wrists and ankles. As the disease progresses, affected individuals may develop arthritis, joint contractures, and muscle weakness. The osteolysis can extend to other bones, including the mandible and clavicles.

Genetics

MCTO is usually inherited in an autosomal dominant pattern. Mutations in the MCPH1 gene have been identified as a cause of this syndrome. The MCPH1 gene is involved in the regulation of cell cycle and DNA repair, which may explain the progressive nature of the bone destruction seen in MCTO.

Diagnosis

Diagnosis of MCTO is based on clinical evaluation, radiographic findings, and genetic testing. Radiographs typically show progressive osteolysis of the carpal and tarsal bones, with other bones potentially being affected as the disease advances. Genetic testing can confirm mutations in the MCPH1 gene.

Management

There is currently no cure for MCTO. Management focuses on symptomatic relief and maintaining joint function. This may include physical therapy, pain management, and orthopedic interventions such as splinting or surgery. Early intervention and regular monitoring are crucial to manage the complications associated with this syndrome.

Prognosis

The prognosis for individuals with MCTO varies. While the condition is progressive, the rate of progression and severity can differ among affected individuals. Early diagnosis and appropriate management can help improve the quality of life for those with MCTO.

Related Pages

• Osteolysis
• Arthritis
• Genetic disorder
• Autosomal dominant
• Physical therapy