Singleton Merten syndrome synonyms
What other names are the Singleton Merten syndrome known by? Synonyms and other terms with which Singleton Merten syndrome is known.
Singleton Merten syndrome, also known as Singleton-Merten dysplasia, is a rare genetic disorder characterized by a combination of dental abnormalities, skeletal abnormalities, and progressive calcification of the aorta and heart valves. This condition was first described by Singleton and Merten in 1973 and has since been reported in a limited number of individuals worldwide.
Synonyms for Singleton Merten syndrome include Singleton-Merten dysplasia, Merten syndrome, and Merten dysplasia.
Individuals with Singleton Merten syndrome may exhibit a range of symptoms and features, which can vary in severity. Dental abnormalities commonly seen in affected individuals include early loss of primary and permanent teeth, root resorption, and gum infections. Skeletal abnormalities may include osteoporosis, thinning of the long bones, and joint laxity. Progressive calcification of the aorta and heart valves can lead to aortic stenosis, aortic regurgitation, and other cardiovascular complications.
The exact cause of Singleton Merten syndrome is currently unknown, but it is believed to be inherited in an autosomal dominant manner. This means that a mutation in a specific gene is sufficient to cause the condition. However, the specific gene or genes involved have not yet been identified.
Diagnosis of Singleton Merten syndrome is typically based on clinical features, dental and skeletal abnormalities, and imaging studies such as X-rays and echocardiograms. Genetic testing may also be performed to confirm the diagnosis and identify the underlying genetic mutation.
Treatment for Singleton Merten syndrome is focused on managing the symptoms and complications associated with the condition. This may involve dental interventions, such as tooth extractions and gum treatments, as well as orthopedic management for skeletal abnormalities. Regular monitoring of cardiovascular health is essential, and surgical interventions may be necessary to address aortic and heart valve problems.
In conclusion, Singleton Merten syndrome is a rare genetic disorder characterized by dental and skeletal abnormalities, as well as progressive calcification of the aorta and heart valves. It is important for individuals with this condition to receive appropriate medical care and management to address the various symptoms and complications associated with the syndrome.
