Singleton Merten syndrome

Autosomal dominant - en

Singleton Merten syndrome is a rare genetic disorder characterized by a combination of dental anomalies, osteoporosis, and calcification of the aorta and heart valves. The syndrome was first described by Singleton and Merten in 1973.

Presentation

Individuals with Singleton Merten syndrome typically present with a variety of symptoms, including:

• Severe periodontitis leading to early loss of teeth
• Osteoporosis and osteopenia
• Aortic valve and mitral valve calcification
• Muscle weakness
• Growth retardation
• Joint pain and arthritis

Genetics

Singleton Merten syndrome is inherited in an autosomal dominant manner. Mutations in the IFIH1 gene have been identified as a cause of the syndrome. The IFIH1 gene is involved in the body's immune response to viral infections.

Diagnosis

Diagnosis of Singleton Merten syndrome is based on clinical evaluation, family history, and genetic testing. Imaging studies such as X-rays and echocardiograms are used to assess bone density and heart valve calcification.

Management

There is no cure for Singleton Merten syndrome, and treatment is primarily supportive. Management may include:

• Dental care to manage periodontitis
• Bisphosphonates to treat osteoporosis
• Regular monitoring of heart function
• Physical therapy to improve muscle strength and joint function

Prognosis

The prognosis for individuals with Singleton Merten syndrome varies depending on the severity of symptoms and the presence of complications such as heart valve calcification. Early diagnosis and management can improve quality of life.

Related Pages

• Genetic disorder
• Periodontitis
• Osteoporosis
• Aortic valve
• Mitral valve
• Autosomal dominant
• Genetic testing
• Bisphosphonates
• Physical therapy