Timothy Syndrome Foundation
What is Timothy Syndrome
Timothy Syndrome (TS) is a rare genetic, multi-system disorder which affects the ability of the calcium ion channel, coded by the CACNA1C gene, to function properly. Characteristics of TS include but are not limited to: prolonged QT interval (cardiac arrhythmia), syndactyly (webbed fingers and/or toes), intermittent hypoglycemia (low blood sugar), neurological concerns (including autism and developmental delay), immunodeficiency, hypotonia (low muscle tone), craniofacial abnormalities, pulmonary and gastrointestinal issues.
More About Symptoms
Individuals with TS all have a prolonged QTc interval, which can cause abnormal (potentially life threatening) heart rhythms and lead to sudden cardiac death. Beta blockers, often with the addition of mexiletine, and/or implantable cardiac defibrillators (ICDs) are currently the best-known therapies.
Most individuals with TS have varied symptoms of autism spectrum disorder.
Many TS individuals are hypotonic, meaning they have weak or deteriorating muscles. Some TS individuals cannot walk without assistance.
Some individuals with TS experience intermittent hypoglycemia (low blood sugar levels). This can be extremely dangerous and life-threatening. The TSF has a special protocol for parents when they go to the Emergency Room with a child who is hypoglycemic.
TS was first recognized as a syndrome because children with TS had syndactyly, which is fused fingers and toes, in association with LQT.
Many of our TS children and young adults have digestive issues, including diarrhea, severe constipation, or other GI concerns.
Some TS individuals experience frequent pneumonia, asthma, and other breathing issues. Some have been given a diagnosis of pulmonary hypertension.
TS kids were often noted to have low set ears, a thin upper lip, and a flat, wide nasal bridge. Often TS individuals have dental issues which may require tooth removal at an early age.
Some children have experienced dangerous cardiac arrhythmias upon the administration of anesthesia for surgeries. This may be first observed when children go in to correct their syndactyly or have dental procedures.
TS individuals may have myopia, astigmatism or strabismus, and most require eyeglasses at an early age.
Timothy Syndrome Foundation
Timothy Syndrome Foundation is a charitable 501(c)3 organization providing affected individuals and their families support and education and offering resources to inform and promote research within the medical and research communities. The charity was formed in 2021 by Katherine Timothy, for whom the condition was named after her years of tireless research into TS, along with a group of concerned parents and other researchers. Our ultimate hope is to identify more affected individuals and promote research into more effective treatments to protect and improve the lives of these children and their families.
Who we serve
Sign Up for our TS Registry
Whether you are an individual with TS, a family member, a medical professional or researcher, please consider joining our registry. Our registry will be very important for the furtherance of research into understanding the mechanisms of Timothy Syndrome which will hopefully lead to new, more effective treatments, as well as a better quality of life for those affected.
Sign up to be a part of our TS registry
Who are you creating an account for?