Singleton Merten syndrome is a rare genetic disorder that affects multiple systems in the body. It is characterized by a combination of dental abnormalities, skeletal abnormalities, and progressive calcification of the aorta (the main artery that carries blood from the heart to the rest of the body).
Dental abnormalities associated with Singleton Merten syndrome include early loss of primary (baby) teeth, delayed eruption of permanent teeth, and abnormal tooth enamel. These dental issues can lead to difficulties in chewing and speaking.
Skeletal abnormalities may include thinning of the bones (osteoporosis), joint problems, and abnormal curvature of the spine (scoliosis). These skeletal issues can result in bone fractures and mobility challenges.
Progressive calcification of the aorta is a key feature of Singleton Merten syndrome. This means that the walls of the aorta become hardened and less flexible over time, potentially leading to heart problems and increased risk of aortic rupture.
Singleton Merten syndrome is a complex condition with variable symptoms and severity. It is typically diagnosed based on clinical features, genetic testing, and imaging studies. Treatment focuses on managing the specific symptoms and may involve a multidisciplinary approach with specialists from various medical fields.