Singleton Merten syndrome
Singleton Merten Syndrome
Singleton Merten Syndrome (pronunciation: sing-gul-ton mer-ten sin-drome) is a rare genetic disorder characterized by abnormalities of the teeth, bones, and heart.
Etymology
The syndrome is named after the two physicians, Dr. Singleton and Dr. Merten, who first described the condition in 1973.
Definition
Singleton Merten Syndrome is a genetic disorder that primarily affects the cardiovascular system, skeletal system, and dental health. It is characterized by abnormal calcification in the aorta and cardiac valves, dental anomalies, and progressive osteoporosis.
Symptoms
The symptoms of Singleton Merten Syndrome can vary greatly among affected individuals. Common symptoms include:
Causes
Singleton Merten Syndrome is caused by mutations in the IFIH1 gene. This gene provides instructions for making a protein that plays a critical role in the body's immune response to viral infections.
Diagnosis
Diagnosis of Singleton Merten Syndrome is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include genetic testing, radiography, and echocardiography.
Treatment
Treatment of Singleton Merten Syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may include surgery to manage heart and dental abnormalities, medication to manage symptoms, and physical therapy to manage skeletal abnormalities.
Related Terms
- Genetic disorder
- Cardiovascular system
- Skeletal system
- Dental health
- Aortic calcification
- Cardiac valve calcification
- Osteoporosis
- Dental anomalies
- IFIH1
- Genetic testing
- Radiography
- Echocardiography
- Surgery
- Medication
- Physical therapy
External links
- Medical encyclopedia article on Singleton Merten syndrome
- Wikipedia's article - Singleton Merten syndrome
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