Living with Timothy syndrome
A rare genetic condition that mostly affects the heart's rhythm, along with fused fingers or toes and other features.
Understanding Timothy syndrome
It includes long QT syndrome, in which the heart takes longer than usual to recharge between beats and can have serious rhythm problems (arrhythmias). Some people have structural heart differences. Other features include webbing of the fingers or toes, distinctive facial features, small teeth, and frequent cavities. Autism and other nervous system features can occur. Severity varies.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Long QT heart rhythm problems (ventricular tachycardia)
- Slow heartbeat (bradycardia) or heart block
- Webbing or fusion of fingers or toes (syndactyly)
- Small teeth and cavities
- Low muscle tone (hypotonia)
- Autism and frequent infections
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in CACNA1C are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
SADS Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: SADS Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with SADS Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the CACNA1C gene. It is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: long qt syndrome type 8; long qt syndrome with syndactyly; long qt syndrome-syndactyly syndrome; lqt8; ts
Patient organizations
- SADS FoundationTimothy syndrome · United States
- Simons SearchlightTimothy syndrome · United States
- Organization for Autism ResearchTimothy syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Timothy syndrome.
Explore research for Timothy syndrome
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