How Many People Have 5p- Syndrome?
5p- Syndrome, also known as Cri du Chat Syndrome, is more common than many realize. It occurs in approximately 1 in 15,000 to 1 in 50,000 individuals. Though classified as a rare disease, it is actually the most common contiguous gene deletion disorder. New cases are identified every week.
To date, over 2,000 individuals have been diagnosed worldwide, with approximately 1,100 of those in the United States. However, these numbers are believed to be significantly underestimated—5p- Syndrome continues to be underdiagnosed globally.
5p Minus Syndrome Search & Rescue
Our Search and Rescue initiative is a collaborative global effort to identify every individual living with 5p- Syndrome. Supported by international organizations and clinicians, this program aims to bring the 5p- community together and improve early detection and access to care.
The Role of Newborn Screening
Newborn screening for critical 5p- syndrome genes could reveal the true incidence of 5p- Syndrome. This data is essential not only for awareness and diagnosis but also for helping pharmaceutical companies understand the number of individuals who could benefit from targeted treatments.
In the future, early identification through newborn screening could allow for immediate intervention—possibly even before symptoms appear. This could open the door to earlier therapies and increased investment in treatment development for 5p- Syndrome.