Holt Oram Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Holt Oram Syndrome is not the name you expected.
Holt-Oram syndrome is a disorder that affects approximately 1 in 100,000 individuals. It is characterized by abnormalities in the bones of the upper limb, a family or personal history of a congenital heart malformation, and/or an abnormality in the electrical impulses that coordinate the muscle contractions of the heart (cardiac conduction defect). In some affected individuals, an abnormal wrist (carpal) bone is the only evidence of the disease. Seventy-five percent of those affected have a congenital heart malformation. Holt-Oram syndrome is an autosomal dominant genetic condition that is associated with an abnormality in the TBX5 gene. While this mutation can be inherited, most cases result from a new mutation in patients without a family history of the disorder.
American Heart Association
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Congenital Heart Information Network (C.H.I.N.)
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- Website: http://www.tchin.org
Genetic and Rare Diseases (GARD) Information Center
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- Gaithersburg, MD 20898-8126
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- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
Kids With Heart ~ National Association for Children's Heart Disorders, Inc.
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- Green Bay, WI 54304
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Little Hearts, Inc.
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NIH/National Heart, Lung and Blood Institute
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NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Information Clearinghouse
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- Tel: (877)226-4267
- Email: NIAMSinfo@mail.nih.gov
- Website: http://www.niams.nih.gov/
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- United Kingdom
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For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 1/28/2014
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