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Diseases

Genetic and Rare Diseases Information Center (GARD)

Timothy syndrome


Other Names for this Disease
  • Long QT syndrome 8
  • LQT8
  • Long QT syndrome with syndactyly
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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.[1][2]

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 mutations in the CACNA1C gene and are inherited in an autosomal dominant manner.[1][2] Treatment is focused on managing cardiac symptoms. This might include medications such as beta-blockers, placement of defibrillators, and pacemakers.[3]
Last updated: 6/21/2016

References

  1. Timothy Syndrome. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=timothysyndrome. Accessed 6/21/2016.
  2. Carlo Napolitano, MD, PhD, Igor Splawski, PhD, Katherine W Timothy, BS, Raffaella Bloise, MD, Silvia G Priori, MD, PhD.. Timothy syndrome. GeneReviews. July 16, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1403.
  3. Katherine W. Timothy. Timothy Syndrome. NORD. 2005; http://rarediseases.org/rare-diseases/timothy-syndrome/. Accessed 6/21/2016.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Timothy syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Timothy syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Videos/Presentations

Other Names for this Disease
  • Long QT syndrome 8
  • LQT8
  • Long QT syndrome with syndactyly
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.