Singleton-Merten dysplasia

Singleton-Merten dysplasia is a rare condition that affects several parts of the body. It is known for dental dysplasia (problems with the development of the teeth) and for issues with the bones in the hands, where the marrow cavities become enlarged. In addition, people with this condition may experience osteoporosis, which makes bones weak, and other bone changes. Another key feature of this condition is the progressive calcification (hardening) of the thoracic aorta, the main vessel that carries blood from the heart, which may lead to narrowing (stenosis). Some affected individuals also experience muscle weakness, muscle loss (atrophy), and chronic skin eruptions that look similar to psoriasis. This condition has been observed in both isolated cases and in families with more than one affected member.

In people with Singleton-Merten dysplasia, common symptoms include dental problems such as dental dysplasia, progressive calcification of the thoracic aorta leading to narrowing, osteoporosis, and expansion of the marrow cavities in the hand bones. There is also generalized muscle weakness and atrophy, along with chronic skin eruptions that resemble psoriasis.

The exact cause of Singleton-Merten dysplasia is not clearly understood. Information about the genetic factors or other risk factors involved is currently limited for this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.