What is the prevalence of Sotos Syndrome?
How many people does Sotos Syndrome affect? Does it have the same prevalence in men and women? And in the different countries?
Sotos Syndrome is a rare genetic disorder characterized by excessive growth during childhood, developmental delays, and distinctive facial features. The prevalence of Sotos Syndrome is estimated to be around 1 in 14,000 to 1 in 50,000 individuals worldwide. It affects both males and females equally. Although considered a rare condition, it is important to note that the actual prevalence may vary due to underdiagnosis or misdiagnosis. Early diagnosis and appropriate medical management can help individuals with Sotos Syndrome lead fulfilling lives.
Sotos Syndrome is a rare genetic disorder characterized by excessive physical growth during the early years of life. It was first described by Juan Sotos in 1964, hence the name. The prevalence of Sotos Syndrome is estimated to be around 1 in 14,000 to 1 in 50,000 individuals, making it relatively uncommon.
The syndrome affects both males and females equally and is typically diagnosed in early childhood based on the presence of specific physical and developmental features. These may include rapid growth in infancy, a large head size, distinctive facial features, delayed motor and speech development, and intellectual disability.
While the exact cause of Sotos Syndrome is not fully understood, it is often associated with mutations or deletions in the NSD1 gene. Genetic testing can confirm the diagnosis in most cases.
Although Sotos Syndrome is considered a rare condition, it is important to note that prevalence estimates may vary across different populations and regions. Early intervention and appropriate medical management can help individuals with Sotos Syndrome lead fulfilling lives and reach their full potential.
