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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.
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?
Elite in Timothy Syndrome
Elite in Timothy Syndrome

Weill Medical College Of Cornell

520 E 70th St Rm, St4 Cardiology Assoc, 
New York, NY 
Languages Spoken:
English

Geoffrey Pitt is a Cardiologist in New York, New York. Dr. Pitt is rated as an Elite provider by MediFind in the treatment of Timothy Syndrome. His top areas of expertise are Timothy Syndrome, Polysyndactyly Cardiac Malformation, Long QT Syndrome, and Brugada Syndrome.

Elite in Timothy Syndrome
Elite in Timothy Syndrome
Niigata, JP 

Junichi Ozawa practices in Niigata, Japan. Mr. Ozawa is rated as an Elite expert by MediFind in the treatment of Timothy Syndrome. His top areas of expertise are Timothy Syndrome, Polysyndactyly Cardiac Malformation, Long QT Syndrome, and Syndactyly.

 
 
 
 
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Elite in Timothy Syndrome
Elite in Timothy Syndrome
JP 

Minoru Horie practices in Japan. Mr. Horie is rated as an Elite expert by MediFind in the treatment of Timothy Syndrome. His top areas of expertise are Andersen-Tawil Syndrome, Ventricular Fibrillation, Long QT Syndrome, Percutaneous Coronary Intervention (PCI), and Thrombectomy.

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