Which are the symptoms of Singleton Merten syndrome?

Singleton Merten syndrome (SMS) is a rare genetic disorder that affects various systems in the body. It is characterized by a combination of dental abnormalities, skeletal abnormalities, and calcification of the aorta and heart valves. The symptoms of SMS can vary widely among affected individuals, and the severity of the condition can also differ.

Dental abnormalities: One of the hallmark features of SMS is the presence of dental problems. These can include early loss of primary (baby) teeth, delayed eruption of permanent teeth, abnormal tooth enamel, and gum disease. Additionally, individuals with SMS may have dental crowding, malocclusion (misalignment of the teeth), and an increased risk of dental caries (cavities).

Skeletal abnormalities: Another prominent feature of SMS is skeletal abnormalities. These can involve the long bones of the arms and legs, leading to thinning of the bones (osteoporosis) and an increased risk of fractures. Some individuals may also have joint laxity, which can result in joint pain and instability. Additionally, abnormalities in the spine, such as scoliosis (curvature of the spine), may be present.

Calcification of the aorta and heart valves: Calcification refers to the abnormal deposition of calcium in tissues. In SMS, calcification commonly affects the aorta (the main artery that carries blood from the heart) and the heart valves. This can lead to aortic stenosis (narrowing of the aorta), aortic regurgitation (leakage of blood back into the heart), and other heart valve abnormalities. These cardiac issues can result in symptoms such as shortness of breath, chest pain, and fatigue.

Other less common symptoms that have been reported in individuals with SMS include psoriasis (a chronic skin condition), glaucoma (increased pressure in the eye), and autoimmune disorders. Additionally, some affected individuals may experience developmental delays, intellectual disability, or behavioral problems.

Due to the rarity of Singleton Merten syndrome, it can often be challenging to diagnose. The symptoms can overlap with other conditions, making it important for individuals with suspected SMS to undergo a thorough evaluation by a medical professional. Genetic testing may be necessary to confirm the diagnosis.

Management of SMS typically involves a multidisciplinary approach, with various specialists collaborating to address the specific symptoms and complications experienced by each individual. Treatment may include dental interventions, orthopedic management of skeletal abnormalities, and cardiology interventions to monitor and manage cardiac issues.

In conclusion, Singleton Merten syndrome is a rare genetic disorder characterized by dental abnormalities, skeletal abnormalities, and calcification of the aorta and heart valves. The symptoms can vary widely among affected individuals, and diagnosis often requires genetic testing. A multidisciplinary approach is essential for managing the condition and addressing the specific needs of each individual.