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Holt Oram Syndrome

Abstract

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NORD is very grateful to Jaqueline Picache, NORD Editorial Intern from the University of Notre Dame, and Craig T. Basson, MD, PhD, Translational Medicine Head, Cardiovascular Translational Medicine Head (a.i.) - Diabetes and Metabolism, Novartis Institutes for Biomedical Research, for assistance in the preparation of this report.

Synonyms of Holt Oram Syndrome

  • atriodigital dysplasia
  • heart-hand syndrome
  • HOS1
  • ventriculo-radial syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

General Discussion
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.

Holt Oram Syndrome Resources

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., skeletal malformations affecting the upper limbs, heart defects, etc.].)

Organizations:

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