Holt-Oram syndrome

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Disease Overview

Holt-Oram syndrome affects the bones of the hands and arms and may also affect the heart. People with Holt-Oram syndrome have at least one bone in the wrist that did not form (develop) normally. Other bones in the hands, arms, and shoulder may also have developed abnormally. Many of these developmental changes in the bones can only be seen on an x-rayMost people with Holt-Oram syndrome also have heart problems, including problems due to the way the heart formed (congenital) or problems with the way the heart beats.[2478][3941]

Holt-Oram syndrome is caused by genetic changes (pathogenic variants or mutations) in the TBX5 gene. The syndrome is inherited in an autosomal dominant manner. A diagnosis of Holt-Oram syndrome may be suspected when a person has symptoms of the syndrome. An x-ray of the hands, wrists, and arms, echocardiogram of the heart, and genetic testing may be used to confirm the diagnosis. Treatment options for Holt-Oram syndrome may include surgeries to treat bone or heart problems, as well as physical therapy.[3941] 


Synonyms

  • Heart-hand syndrome
  • HOS
  • Atriodigital dysplasia
  • Ventriculo-radial syndrome
  • Atrio digital syndrome
  • Cardiac-limb syndrome
  • Heart-hand syndrome, type 1
  • HOS 1

For more information, visit GARD.

National Organization for Rare Disorders