What is Smith-Kingsmore Syndrome?
Smith-Kingsmore Syndrome (SKS) is a rare genetic condition, with very few affected individuals reported so far. It was first described by Dr Smith, L.D et al. in 2013.
Why does it occur?
Smith Kingsmore Syndrome is caused by an alteration in the MTOR (mammalian target of rapamycin) gene. Our genes are located on chromosomes and are present, usually in pairs, in all the cells of our body. The MTOR gene sits on chromosome 1 (more precisely chromosome location 1p36) and, in SKS, only one gene of the pair has an alteration (also known as a mutation). This pattern, where one copy of the MTOR gene pair is altered and the other is “normal”, is called autosomal dominant. Following autosomal dominant inheritance, individuals with SKS have a 50% chance on passing on the altered MTOR gene copy and therefore SKS to their children.
How is SKS diagnosed?
The first step to a diagnosis of SKS is clinical suspicion by the specialist based on presenting symptoms. A genetic test can then be used to confirm the suspicion, this could be a ‘whole exome sequencing’ test.
Individuals affected with SKS have a range of different medical problems but, common to most people, are intellectual disability (ranging from mild to severe) and macrocephaly (enlarged head). Other SKS associations include autistic spectrum disorder and seizures. Work is underway to try to clarify the types of clinical problems associated with SKS.
Treatment & Support
Support for Smith-Kingsmore Syndrome is currently focussed on treatment of the individual symptoms as they occur, overseen by an appropriate specialist. Due to the variety of issues this will probably result in a multi-disciplinary approach with many specialists involved in the care and support.
Research is currently underway to investigate new treatments for SKS and it is likely that new approaches will emerge over the coming years.
Facebook Support Group
The CGF run a number of closed Facebook groups, providing peer support for people directly affected by growth conditions, their parents, family and friends. These groups are a fantastic support tool. Click the image below to find the Smith-Kingsmore Syndrome Facebook group.
We hope to add personal experiences and stories from people affected by Smith-Kingsmore Syndrome soon.
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