What is PACS1-related syndrome?
PACS1-related syndrome is a genetic disorder caused by a change in the PACS1 gene.
A genetic change in the PACS1 gene (also called a mutation or a pathogenic variant) has been linked to developmental delay/intellectual disability (ID) and subtle facial similarities among the affected individuals. Other observed characteristics were congenital anomalies, behavioral problems, neurologic problems, gastrointestinal problems and growth abnormalities, but not all individuals with a change in the PACS1 gene have these features.
How many people are affected by PACS1-related syndrome?
PACS1-related syndrome is a rare disease. So far, only 28 patients with a change in the PACS1 gene are known from the medical literature. However, around 60 individuals are reported by the PACS1-parents facebook group. We are still learning more about this condition.