About Us

It is the mission of the Phelan-McDermid Syndrome Foundation to improve the quality of life of people affected by PMS worldwide by providing family support, accelerating research and raising awareness.


The Phelan-McDermid Syndrome Foundation, established in 2002, is a 501(c)3 nonprofit group.

The syndrome, which affects people worldwide, is a result of a deletion of 22q13 or a Shank 3 mutation.


Our foundation is strongly focused on two complementary goals: Family Support and Research.

We facilitate connections among families through our website, monthly newsletter, Facebook, Twitter, regional gatherings and a biennial international conference. Our conference brings together families, therapists, caregivers and researchers.

We are working hard to help find effective therapeutics for people with Phelan-McDermid Syndrome. We fund important basic and translational science, a web-based patient registry, and scientific meetings.


The Phelan-McDermid Syndrome Foundation is governed by a Board of Directors.

Last Updated on Sunday, 25 January 2015 13:24
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