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?
Distinguished
Highly rated in
16
conditions
Cardiology

The MetroHealth System

Ohio City Health Center

4757 Lorain Ave 
Cleveland, OH 44102

Kathleen Quealy is a Cardiologist in Cleveland, Ohio. Dr. Quealy has been practicing medicine for over 32 years and is rated as a Distinguished doctor by MediFind in the treatment of Timothy Syndrome. She is also highly rated in 16 other conditions, according to our data. Her top areas of expertise are Long QT Syndrome 5, Jervell Lange-Nielsen Syndrome JLNS, Long QT Syndrome, and Long QT Syndrome 1. She is licensed to treat patients in Ohio. Dr. Quealy is currently accepting new patients.

Distinguished
Highly rated in
49
conditions
Cardiac Electrophysiology
Cardiology

University of Wisconsin Health

Cardiovascular Medicine Clinic

600 Highland Ave 
Madison, WI 53792

Craig January is a Cardiac Electrophysiologist and a Cardiologist in Madison, Wisconsin. Dr. January has been practicing medicine for over 46 years and is rated as a Distinguished doctor by MediFind in the treatment of Timothy Syndrome. He is also highly rated in 49 other conditions, according to our data. His top areas of expertise are Long QT Syndrome 2, Long QT Syndrome, Long QT Syndrome 1, and Atrial Fibrillation. He is licensed to treat patients in Wisconsin. Dr. January is currently accepting new patients.

 
 
 
 
Learn about our expert tiers
Learn more
Distinguished
Highly rated in
30
conditions

Shiga University Of Medical Science

Suita, JP 

Seiko Ohno is in Suita, Japan. Ohno is rated as a Distinguished expert by MediFind in the treatment of Timothy Syndrome. They are also highly rated in 30 other conditions, according to our data. Their top areas of expertise are Long QT Syndrome, Brugada Syndrome, Familial Ventricular Tachycardia, and Ventricular Tachycardia.

What are the latest Timothy Syndrome Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
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.