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Genetic and Rare Diseases Information Center (GARD)

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Holt-Oram syndrome


Other Names for this Disease
  • Atrio digital syndrome
  • Atriodigital dysplasia
  • Cardiac-limb syndrome
  • Heart-hand syndrome
  • Heart-hand syndrome, type 1
More Names
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Overview


Holt-Oram syndrome is a genetic condition characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. Affected individuals have at least one bone abnormality in the wrist, and they may have additional skeletal abnormalities. About 75 percent of individuals with Holt-Oram syndrome have heart problems, including congenital heart defects and/or cardiac conduction disease, which is an abnormality in the electrical system that coordinates contractions of the heart chambers. Holt-Oram syndrome is caused by mutations in the TBX5 gene. Most cases result from new mutations in this gene and occur in people with no history of the disorder in their family.[1]
Last updated: 7/19/2011

References

  1. Holt-Oram Syndrome. Genetics Home Reference. December 2009; http://ghr.nlm.nih.gov/condition/holt-oram-syndrome. Accessed 7/19/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Holt-Oram syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Holt-Oram syndrome. Click on the link to view a sample search on this topic.