Coffin Siris Syndrome (CSS) is a rare genetic disorder characterized by developmental delays, intellectual disability, distinctive facial features, and various physical abnormalities. The prevalence of CSS is relatively low, making it a rare condition. However, exact prevalence rates are challenging to determine due to the limited number of reported cases and the wide spectrum of symptoms.
Research suggests that CSS affects approximately 1 in 50,000 to 100,000 individuals worldwide. It is important to note that this estimate may not fully capture the true prevalence, as milder cases or individuals with atypical features may go undiagnosed or misdiagnosed. CSS can affect individuals of any gender, ethnicity, or geographical location.
Diagnosis of CSS is typically based on clinical evaluation, genetic testing, and the presence of characteristic features. Early intervention and ongoing support are crucial for individuals with CSS to optimize their development and quality of life.
While CSS is a rare condition, raising awareness among healthcare professionals and the general public is essential for early identification, appropriate management, and support for affected individuals and their families.