Smith-Kingsmore Syndrome or “SKS” is caused by a heterozygous mutation in the MTOR gene on chromosome 1p36. SKS often occurs “de novo” i.e. neither parent carries the mutation. The incidence is rare with less then 100 documented cases worldwide and can cause a variety of issues for the individual including seizures, intellectual disability, autism spectrum disorder, cancer as well as physical disabilities.
Currently, there is no treatment or cure for SKS. There are medications to help control seizures, although sometimes these seizures can be difficult to control. Therapy and early intervention programs can help with the developmental and physical delays.
