Short answer · Medically reviewed summary · Last updated: 2023-07-13
Singleton Merten syndrome is an extremely rare genetic disorder characterized by a variety of symptoms affecting multiple systems in the body. Due to its rarity, the prevalence of Singleton Merten syndrome is not well-established.
Singleton Merten syndrome is an extremely rare genetic disorder characterized by a variety of symptoms affecting multiple systems in the body. Due to its rarity, the prevalence of Singleton Merten syndrome is not well-established. Limited data and case reports make it difficult to determine an exact prevalence rate for this condition.
Singleton Merten syndrome is believed to be an autosomal dominant disorder, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. However, the exact gene responsible for this syndrome has not yet been identified.
The syndrome primarily affects the skeletal, dental, and cardiovascular systems. Individuals with Singleton Merten syndrome may experience progressive calcification of the aorta, heart valve abnormalities, dental anomalies, osteoporosis, and muscle weakness. Other features may include psoriasis, glaucoma, and abnormal nail growth.
Due to the rarity of Singleton Merten syndrome and the lack of comprehensive studies, it is challenging to provide an accurate prevalence rate. Further research and genetic studies are needed to better understand the frequency and distribution of this condition within the population.