Phelan-McDermid syndrome may affect 1 in 7,300 people

A major analysis indicates that Phelan-McDermid syndrome, a genetic disorder closely linked to autism, may be more prevalent than previously understood, affecting approximately 1 in 7,300 people and more than 45,000 Americans. While targeted treatments for the condition are moving into clinical trials, researchers caution that thousands of cases likely remain undiagnosed because genetic testing is frequently not performed. This suggests the true scope of the disorder extends beyond current medical records.