What is the prevalence of 22q13 deletion / Phelan-McDermid Syndrome?
How many people does 22q13 deletion / Phelan-McDermid Syndrome affect? Does it have the same prevalence in men and women? And in the different countries?
Phelan-McDermid Syndrome, also known as 22q13 deletion syndrome, is a rare genetic disorder caused by the deletion or disruption of a small piece of chromosome 22. The prevalence of this syndrome is estimated to be around 1 in 20,000 to 1 in 50,000 individuals. It is characterized by developmental delays, intellectual disability, speech and language impairments, and autism spectrum disorder. While the syndrome is considered rare, it is important to note that the exact prevalence may vary due to underdiagnosis or misdiagnosis. Early diagnosis and intervention are crucial for individuals with Phelan-McDermid Syndrome to optimize their developmental outcomes.
Phelan-McDermid Syndrome, also known as 22q13 deletion syndrome, is a rare genetic disorder caused by the deletion or disruption of a small piece of chromosome 22. This syndrome is characterized by a range of symptoms including intellectual disability, delayed or absent speech, low muscle tone, and autism spectrum disorder.
The prevalence of 22q13 deletion syndrome is estimated to be around 1 in 20,000 to 1 in 50,000 individuals. However, due to underdiagnosis and misdiagnosis, the true prevalence may be higher. It affects both males and females equally and has been reported in various ethnic groups worldwide.
Phelan-McDermid Syndrome is often diagnosed through genetic testing, specifically through chromosomal microarray analysis. Early diagnosis and intervention are crucial for individuals with this syndrome to receive appropriate support and therapies tailored to their specific needs.
Research and awareness about Phelan-McDermid Syndrome are ongoing, aiming to improve understanding, diagnosis, and treatment options for affected individuals and their families.
