Singleton Merten syndrome
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Singleton-Merten syndrome | |
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Synonyms | Singleton-Merten dysplasia |
Pronounce | |
Specialty | Medical genetics |
Symptoms | Aortic valve calcification, dental dysplasia, osteoporosis, psoriasiform rash |
Complications | N/A |
Onset | Childhood |
Duration | Lifelong |
Types | N/A |
Causes | Genetic mutation |
Risks | Family history |
Diagnosis | Genetic testing, clinical evaluation |
Differential diagnosis | Rheumatic fever, Marfan syndrome, Ehlers-Danlos syndrome |
Prevention | N/A |
Treatment | Symptomatic treatment, dental care, cardiac monitoring |
Medication | N/A |
Prognosis | Variable, depends on severity |
Frequency | Rare |
Deaths |
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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.
See also[edit | edit source]
- Genetic disorder
- Periodontitis
- Osteoporosis
- Aortic valve
- Mitral valve
- Autosomal dominant
- Genetic testing
- Bisphosphonates
- Physical therapy
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Contributors: Prab R. Tumpati, MD