Learn About Timothy Syndrome

What is the definition of Timothy Syndrome?
Timothy syndrome is a disorder that affects the heart, digits (toes and fingers), and nervous system (brain and nerves). It is a type of long QT syndrome. Long QT syndrome refers to a prolonged QT interval measurement seen on the electrocardiogram. Symptoms of Timothy syndrome include fusion of the skin between fingers or toes (syndactyly), distinctive facial features, and congenital heart defects. Additional symptoms may include developmental delay, intellectual disability, and autism spectrum disorders. There are two forms of Timothy syndrome, classified based on signs and symptoms. Type 1, known as classic type, includes all of the symptoms described above. Type 2, or atypical type, causes a more severe form of long QT syndrome and does not appear to include syndactyly. Both types are caused by genetic changes in the CACNA1C gene and are inherited in an autosomal dominant manner.
Save information for later
Sign Up
What are the alternative names for Timothy Syndrome?
  • Timothy syndrome
  • LQT8
  • Long QT syndrome 8
  • Long QT syndrome with syndactyly
Who are the top Timothy Syndrome Local Doctors?
JO
Junichi Ozawa
Elite
Highly rated in
6
conditions

Saitama Medical University

Otsu, JP 

Junichi Ozawa practices in Otsu, Japan. Ozawa is rated as an Elite expert by MediFind in the treatment of Timothy Syndrome. He is also highly rated in 6 other conditions, according to our data. His top areas of expertise are Timothy Syndrome, Polysyndactyly Cardiac Malformation, Long QT Syndrome, and Syndactyly.

MH
Minoru Horie
Elite
Highly rated in
37
conditions

Tokyo Medical And Dental University

Tokyo, JP 

Minoru Horie practices in Tokyo, Japan. Horie is rated as an Elite expert by MediFind in the treatment of Timothy Syndrome. He is also highly rated in 37 other conditions, according to our data. His top areas of expertise are Andersen-Tawil Syndrome, Long QT Syndrome, Brugada Syndrome, Percutaneous Coronary Intervention (PCI), and Cardiac Ablation.

 
 
 
 
Learn about our expert tiers
Learn more
SO
Seiko Ohno
Elite
Highly rated in
23
conditions

National Cerebral And Cardiovascular Center

Suita, JP 

Seiko Ohno practices in Suita, Japan. Ohno is rated as an Elite expert by MediFind in the treatment of Timothy Syndrome. They are also highly rated in 23 other conditions, according to our data. Their top areas of expertise are Long QT Syndrome, Familial Ventricular Tachycardia, Timothy Syndrome, Brugada Syndrome, and Cardiac Ablation.

View All Doctors
What are the latest Timothy Syndrome Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
View All Clinical Trials
Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Timothy Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.