Phelan-McDermid Syndrome

Phelan-McDermid Syndrome is a rare genetic disorder caused by the loss or deletion of a segment on chromosome 22, typically affecting the SHANK3 gene. This gene plays a crucial role in brain development and communication between nerve cells. Individuals with the syndrome often experience developmental delays, intellectual disabilities, speech impairments, and challenges with motor skills. Some may also have autism spectrum behaviors, seizures, and health issues like hypotonia (poor muscle tone). The severity varies among individuals. There's no cure, but early intervention and supportive therapies can help improve quality of life and developmental outcomes.