Shop the Official PMSF Store
Looking for Phelan-McDermid Syndrome Foundation apparel? The official PMSF online store makes it easy to show your support, spread awareness, and stay connected to the Phelan-McDermid syndrome community
Looking for Phelan-McDermid Syndrome Foundation apparel? The official PMSF online store makes it easy to show your support, spread awareness, and stay connected to the Phelan-McDermid syndrome community
Phelan-McDermid syndrome is a rare genetic condition usually caused by a deletion or structural change at the end of chromosome 22, in a region called 22q13. Symptoms and severity can vary widely among people with Phelan-McDermid syndrome. For individuals with a chromosome 22 deletion, the size of the deletion may help explain some of these clinical differences. In general, larger 22q13 deletions are associated with more significant developmental delays and medical concerns. A recent study in 63 people with Phelan-McDermid syndrome further explored these genotype-phenotype relationships, helping researchers better understand how chromosome 22 deletion size may influence symptoms such as language development, motor function and development, and social behaviors as well as medical issues. This study also identified several candidate genes that could also be contributing to the symptoms seen in Phelan-McDermid syndrome.
The Castillo family’s 9th Annual #TeamMatthewLuis fundraiser raised more than $21,000 for Phelan-McDermid syndrome research and family support programs.
By: Meagan Hutchinson (PMSF Scientific Program Coordinator) and Lauren Schmitt, PhD (PMSF Chief Science Officer) Date: May 20, 2026 What Did…
By: Amanda Bergen & Carla D'ImperioDate: 3/25/26Your go-to resource for local essentials, nearby services, and helpful tips during the conference.Attending the…
By Lauren Schmitt, PhDDate February 25, 2026Everyday, our families are taking their loved ones to clinic appointments, research visits, or under…
By: Amanda Bergen, Director of Communications, PMSFFebruary 16, 2026We are excited to officially welcome Robbie Baker as the new Chief Executive…
By: Meagan Hutchinson, Science & Research Administrator, PMSFFebruary 5, 2026Every year on the last day of February, the global rare disease…
In a recent preclinical study, researchers at McGill University found that metformin (an FDA-approved treatment for type 2 diabetes) improved behavior…
By Lauren Schmitt, PhDJanuary 12, 2026With Neuren's Phase 3 clinical trial for NNZ-2591 now open for enrollment, the recent publication of…