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Holt Oram Syndrome

Abstract

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Synonyms of Holt Oram Syndrome

  • atriodigital dysplasia
  • heart-hand syndrome
  • HOS1

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Holt-Oram syndrome is a disorder that is characterized by abnormalities in the bones of the upper limb and a family or personal history of a congenital heart malformation or an abnormality in the electrical impulses that coordinate the muscle contraction 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.

Organizations related to Holt Oram Syndrome

(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.].)

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