About the Phelan-McDermid Syndrome Foundation

Transforming today’s barriers into tomorrow’s breakthroughs

Phelan-McDermid Syndrome Foundation is doing everything it takes to make today better and the future brighter for everyone living with Phelan-McDermid syndrome — from the moment of diagnosis to the delivery of treatments and cures. Phelan-McDermid syndrome is a rare genetic disorder that can compromise many critical functions in a person’s body, from learning and communicating to eating and sleeping.

Phelan-McDermid syndrome is a rare genetic disorder that can compromise many critical functions in a person's body, from learning and communicating to eating and sleeping.

Currently, there are no treatments or cures to address the underlying cause of Phelan-McDermid syndrome.
Started by families who understand both the beauty and barriers of having a child with this life-altering condition, the Foundation is the largest and most trusted nonprofit organization dedicated to bringing hope, help and answers by:

Powered by the collective strength of families, scientific experts and community partners, we’ll transform today’s barriers into tomorrow’s breakthroughs — achieving a world where Phelan-McDermid syndrome is treatable and curable and every person and family affected is thriving.

Our Mission

We exist to make today better and the future brighter for everyone living with Phelan-McDermid syndrome — from the moment of diagnosis to the delivery of treatments and cures.

Our Vision

Phelan-McDermid syndrome is treatable and curable, and every person and family affected is thriving.

Strategic Focus Areas

Connect

Supporting Families

Care

Improving Medical Care

Cure

Driving Research Breakthroughs

Global Partners

The Phelan-McDermid Syndrome Foundation has partnership agreements with many international organizations that support individuals and families living with this genetic condition. Our global partners share information and support and help us understand how many people are living with Phelan-McDermid syndrome worldwide.

There are many family groups around the world, here are some of our partners:

“This is the family I never thought I’d join but couldn’t live without.”

Join Our Community

The Phelan-McDermid Syndrome Foundation has the largest community of individuals and families living with this genetic condition in the world. Our Phelan-McDermid syndrome community grows by nearly one new family a day. Learn more and join us to find the hope, help and answers you need now.