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Genetic and Rare Diseases Information Center (GARD)

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Holt-Oram syndrome

Other Names for this Disease
  • Atrio digital syndrome
  • Atriodigital dysplasia
  • Cardiac-limb syndrome
  • Heart-hand syndrome
  • Heart-hand syndrome, type 1
More Names
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Tests & Diagnosis

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How is Holt-Oram syndrome diagnosed?

The diagnosis of Holt-Oram syndrome can be established based on physical features and family history. It can be confirmed through genetic testing looking for mutations in the TBX5 gene. Hand x-rays are usually performed for upper-limb malformations. A family history of this condition and/or cogenital heart malformations is also used as a diagnostic tool as a congenital heart malformation is present in 75% of individuals with Holt-Oram syndrome. An echocardiogram and electrocardiogram can be used to determine the presence and severity of heart defects and/or cardiac conduction disease.[1][2]

Holt-Oram syndrome can be excluded in individuals with congenital malformations involving the following structures or organ systems: ulnar ray only, kidney, vertebra, head and face region, auditory system (hearing loss or ear malformations), lower limb, anus, or eye.[1]
Last updated: 7/19/2011

  1. McDermott DA, Fong JC, Basson CT. Holt-Oram Syndrome. GeneReviews. January 2011; Accessed 7/19/2011.
  2. Holt Oram Syndrome. National Organization for Rare Disorders (NORD). 2005; Accessed 7/19/2011.


  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.