Phelan-McDermid Syndrome

What is Phelan-McDermid Syndrome?

Phelan-McDermid Syndrome (Deletion 22Q13) is a genetic condition associated with delays in language, motor, and social development. Individuals with Phelan-McDermid Syndrome may also experience low muscle tone, difficulty learning new skills, and medical issues, such as kidneys not functioning properly and cysts on the brain. Treatment to address symptoms of Phelan-McDermid Syndrome could include medical services (such as neurology and other pediatric specialists), physical therapy, occupational therapy, and speech-language therapy.


More information is available through the National Organization for Rare Disorders.