Timothy Syndrome Alliance (TSA) is a registered UK charity (1185523) and patient support group. Our mission is to improve the diagnosis, treatment and care of children with Timothy Syndrome and deleterious CACNA1C gene changes and to support the families of those diagnosed.
Timothy Syndrome is an ultra-rare multi-system disorder caused by genetic changes in the L-type calcium channel gene, CACNA1C. Timothy Syndrome presents with a constellation of significant health concerns which can include an abnormally prolonged QT interval of the heart, brain developmental delays, conjoined fingers/toes (syndactyly), weakened immune system, episodes of low blood sugar (hypoglycaemia), gastrointestinal issues, dental problems and more.
Sadly, as Timothy Syndrome is so rare, there is little accurate information accessible, even online, for families and clinical communities resulting in the prolongation of the diagnostic odyssey many families find themselves on. The presentation of Atypical Timothy Syndrome may not have the cardiac aspects of the disease associated with the syndactyly, and as such many children go unrecognised and untested for other associated health concerns, due to lack of awareness regarding the magnitude and multiplicity of the condition. Our mission is to raise awareness to help identify and diagnose this multi-system disorder to enable appropriate management of the condition.
By raising awareness of Timothy Syndrome we can signpost existing and newly diagnosed families to our website for information and support. The website details more specific information on the condition, our community and some of the researchers helping us to find answers for our children. Work is continuing with the website to ensure it becomes the global go-to information point for accurate and reliable information for all who visit.
** Update ** Please do read our most recent paper ‘Update on the Molecular Genetics of Timothy Syndrome‘
It contains the sort of detail that is required to expand knowledge about specific genes and the varying clinical symptoms associated with different variants. Laboratory genetic scientists can use this information when they are classifying the variants and hopefully tip some of them from variants of uncertain significance into likely pathogenic or pathogenic variants.