The Phelan-McDermid Syndrome Foundation is the leading non-profit organization in the world that advocates for those affected by the rare genetic condition called Phelan-McDermid Syndrome (PMS). Our mission is to offer family support, facilitate research and raise awareness of PMS.
Phelan-McDermid Syndrome, sometimes called 22q13 Deletion Syndrome, is a genetic condition caused by the deletion of the terminal end of chromosome 22 or mutation of the SHANK3 gene. In most cases, the condition is not inherited, but results from a de novo (spontaneous) mutation.