Phelan-McDermid syndrome (PMS) is a rare genetic condition. PMS is sometimes called 22q13 deletion syndrome.
The genetic changes that cause PMS vary from person to person and can occur randomly or be inherited from a parent who carries a related genetic change.
People who have PMS often show symptoms in very early childhood, sometimes at birth and within the first six months of life. They often have hypotonia (low or weak muscle tone) and developmental delay.
Resources
Phelan-McDermid Syndrome Foundation provides family support, accelerating research and raising awareness.
National Organization for Rare Disorders provides information on resources and organizations serving individuals with rare conditions.
Bright Expectations
Find information on evaluation and intervention services, support programs for families, resources for health care providers, and information on developmental disabilities