What is the prevalence of Mulibrey Nanism?
How many people does Mulibrey Nanism affect? Does it have the same prevalence in men and women? And in the different countries?
Mulibrey Nanism is a rare genetic disorder characterized by growth retardation, muscle weakness, and various organ abnormalities. It is caused by mutations in the TRIM37 gene. The prevalence of Mulibrey Nanism is extremely low, with only a few hundred cases reported worldwide. Due to its rarity, it is considered an extremely rare condition. Early diagnosis and management are crucial for individuals affected by this disorder to optimize their quality of life.
Mulibrey Nanism is an extremely rare genetic disorder that affects growth and development. It is characterized by severe growth retardation, distinctive facial features, and various organ abnormalities. The prevalence of Mulibrey Nanism is estimated to be less than 1 in 1,000,000 individuals worldwide, making it an exceptionally rare condition.
The disorder was first described in Finland, where it is more prevalent due to a founder effect. In this population, the prevalence is estimated to be around 1 in 50,000 individuals. However, outside of Finland, the prevalence is significantly lower.
Due to its rarity, Mulibrey Nanism is often misdiagnosed or undiagnosed, leading to challenges in accurately determining its prevalence. Genetic testing is crucial for confirming the diagnosis, as it can help identify mutations in the TRIM37 gene, which is responsible for the disorder.
Although Mulibrey Nanism is a rare condition, it is important for healthcare professionals to be aware of its existence and symptoms to ensure early diagnosis and appropriate management for affected individuals.
