Smith-Kingsmore Syndrome Foundation

Smith-Kingsmore syndrome (SKS) is neurodevelopmental disorder, caused by changes in the MTOR gene that lead to devastating impacts in the neurological, digestive, endocrine, metabolic and nervous systems. The type and severity of the symptoms vary across individuals and may worsen over time. The most common features of SKS are intellectual and developmental disability, large brain size, sleep disturbances, seizures, autism, gastro-intestinal and interoception issues.

The Smith-Kingsmore Syndrome Foundation is the leading global organization funding foundational and drug-repurposing SKS research, as well as providing education and support to the Smith-Kingsmore syndrome community and clinicians who work with our patients. We are relentlessly focused on improving the lives of all people impacted by Smith-Kingsmore syndrome by accelerating research and connecting our global community.