Holt-Oram syndrome

Common Name(s)

Holt-Oram syndrome

Holt-Oram syndrome is a genetic condition characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. Affected people have at least one bone abnormality in the wrist, many of which can be detected only by X-ray. Additional skeletal abnormalities may also be present. About 75% of affected people have heart problems, including congenital heart defects and/or cardiac conduction disease (an abnormality in the electrical system that coordinates contractions of the heart chambers). Holt-Oram syndrome is caused by mutations in the TBX5 gene and is inherited in an autosomal dominant manner. Most cases result from new mutations in the gene and occur in people with no family history of the condition.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Holt-Oram syndrome" for support, advocacy or research.

Kids with Heart National Association for Children's Heart Disorders

Our organization was formed in 1985 with the main mission of providing support, information, resources, and education for the families of the children living with congenital heart defects and to promote public awareness of the issues that these families live with on a day to day basis.

Last Updated: 4 May 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Holt-Oram syndrome" for support, advocacy or research.

Kids with Heart National Association for Children's Heart Disorders

Our organization was formed in 1985 with the main mission of providing support, information, resources, and education for the families of the children living with congenital heart defects and to promote public awareness of the issues that these families live with on a day to day basis.

http://www.kidswithheart.org

Last Updated: 4 May 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Holt-Oram syndrome" returned 44 free, full-text research articles on human participants. First 3 results:

Holt-Oram syndrome: Anesthetic challenges and safe outcome.
 

Author(s): Meenal Rana, Sohan Lal Solanki, Vandana Agarwal, Jigeeshu V Divatia

Journal: Ann Card Anaesth. ;20(1):110-111.

 

Holt-Oram syndrome (HOS) is an autosomal dominant disease with skeletal and cardiac manifestations. We here are presenting a 31-year-old man and a diagnosed case of HOS, with an ulceroproliferative lesion on lateral border of the tongue, was posted for wide excision of lesion with ...

Last Updated: 31 Dec 1969

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Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis.
 

Author(s): Zofia Walencka, Aleksander Jamsheer, Piotr Surmiak, Małgorzata Baumert, Aleksandra Jezela-Stanek, Andrzej Witek, Anna Materna-Kiryluk, Anna Latos-Bieleńska, Magdalena Socha, Anna Sowińska-Seidler

Journal: Ginekol. Pol.. 2016 ;87(10):706-710.

 

Holt-Oram syndrome manifests with defects of upper limbs, pectoral girdle and cardiovascular system. The aim of this paper was to present complex clinical picture of the syndrome and its variable expression on the example of the family diagnosed genetically on the neonatal ward, after ...

Last Updated: 31 Dec 1969

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Syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity: a case report.
 

Author(s): Usang E Usang, Thomas U Agan, Akan W Inyang, John-Daniel C Emehute, Itam H Itam

Journal:

 

The occurrence of an anorectal malformation with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity is rare and to the best of our knowledge has not previously been reported in the literature. Hence, there is a need to document our experience in this case and learn as ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Holt-Oram syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.