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. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
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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Genetic and Rare Diseases (GARD) Information Center
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Kids With Heart ~ National Association for Children's Heart Disorders, Inc.
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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
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For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
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.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email email@example.com
Last Updated: 12/14/1969
Copyright 2014 National Organization for Rare Disorders, Inc.
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