What is Phelan-McDermid Syndrome?
Phelan-McDermid Syndrome(PMS) is a rare genetic condition caused by a deletion or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene. PMS is sometimes called 22q13 Deletion Syndrome.
As is the case with many rare conditions, families may come across several different descriptions of this syndrome based on varying genetic descriptions and varying symptoms. As the research progresses, the science advances, the descriptions will continue to change; the Foundation will continue to monitor and participate in the full characterization of Phelan-McDermid Syndrome over time and will evolve as the syndrome is further described by the scientific community.
Therefore, any family with a genetic report showing a pathogenic mutation of SHANK3 or deletion on the 22q13 region of chromosome 22 is encouraged to join the Phelan-McDermid Syndrome Foundation membership.