Who are we?

The Phelan-McDermid Syndrome Association is made up of parents, family members and those affected by the syndrome. They have come together to provide resources for their current and future members to cope with the challenging and rewarding task of bringing up a child with the syndrome.

Our main objective is to make sure the families have access to reliable and updated information about the syndrome and to promote research into finding solutions for this disorder. And, most importantly, to offer a mutual aid/support community.

We collaborate from Spain with the international Phelan-McDermid Foundation, established over 10 years ago. We are a strong international support community, where those affected by the syndrome can find acceptance, comfort, information and practical advice.

We attend to the needs of our families in many ways, including through a global communications network and important investments in research. We share our hope that one day the debilitating effects of the syndrome will be mitigated or even reversed.

Through Facebook and Twitter groups and regional networks, we prepare families to be effective defenders in medical, educational, and research communities.

Families can join our community by becoming members via the Collaborate section on this website. It is also possible to register on pmsf.org to provide medical reports that can help doctors and scientists with their research and form part of the international community.

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Who are we doing it for?

Our Mission

Our mission at the Phelan-McDermid Syndrome Foundation is to improve the quality of life of those affected by the Syndrome by accelerating research, supporting families and raising awareness.

Our aim, through our organisation in Spain, is to help Spanish families by providing all the information and resources currently available and to encourage families that form part of this Group to collaborate and also to obtain the funding that can allow research to continue.

Access reserved for families

International: 22q13 worldwide

The Phelan-McDermid Syndrome Foundation is a non-profit organisation established in 2002 in the United States to offer the services and support required by those affected by the 22q13 Deletion Syndrome / Phelan-McDermid Syndrome.

As a Foundation, as well as connecting and helping families, it also establishes bonds with other families affected by rare diseases so they can join forces and share their knowledge. We are also dedicated to promoting genetics research and to the development of treatments for those affected by the syndrome.

A number of groups have also been created in Spain for people affected by this syndrome at Reino Unido, Alemania, Italia, Polonia, Francia, Países Bajos, México, USA...

USA México Italia Francia Polonia Países Bajos
About the latest advances and activities


Scientific Symposiums to improve scientific knowledge about the Phelan-McDermid Syndrome and the SHANK3 gene and to promote collaboration among scientists.

Scientific Research Subsidies and Grants to accelerate the development of effective therapies through scientific research.

International bio bank and clinical data registry create a medical and biological sample database to provide the tools required for research.

International Conference enables families and researchers to get together every two years to learn more about the Syndrome.

Family Grants they are awarded according to particular needs, to enable families to attend the Foundation's international conference.

Coordinate support for families around the world through dissemination and awareness-raising activities.