What is the prevalence of Rubinstein-Taybi Syndrome?
How many people does Rubinstein-Taybi Syndrome affect? Does it have the same prevalence in men and women? And in the different countries?
Rubinstein-Taybi Syndrome is a rare genetic disorder characterized by physical and intellectual disabilities. It affects an estimated 1 in 100,000 to 125,000 individuals worldwide. The syndrome is caused by mutations in the CREBBP or EP300 genes, which play crucial roles in normal development. Common features include distinctive facial characteristics, intellectual disability, growth delays, and skeletal abnormalities. While the prevalence of this syndrome is relatively low, it is important to provide support and resources for individuals and families affected by Rubinstein-Taybi Syndrome.
Rubinstein-Taybi Syndrome (RTS) is a rare genetic disorder characterized by physical and intellectual disabilities. The prevalence of RTS is estimated to be around 1 in 125,000 to 1 in 720,000 live births, making it a relatively uncommon condition.
RTS affects both males and females equally, and it is caused by mutations or deletions in the CREBBP or EP300 genes. These genes play a crucial role in regulating the activity of other genes, and their alteration leads to the characteristic features of RTS.
The syndrome is typically diagnosed based on clinical features, including distinctive facial characteristics, broad thumbs and toes, growth delays, and intellectual disabilities. However, the severity and specific symptoms can vary widely among individuals with RTS.
While the exact prevalence of RTS may vary across different populations, it is generally considered a rare condition. Early diagnosis and intervention are important to provide appropriate medical care, support, and therapies to individuals with RTS and their families.
