Holt-Oram Syndrome

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Xu, C. Holt-Oram Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4116 (accessed on 28 September 2026).

Xu C. Holt-Oram Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4116. Accessed September 28, 2026.

Xu, Camila. "Holt-Oram Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4116 (accessed September 28, 2026).

Xu, C. (2020, December 23). Holt-Oram Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4116

Xu, Camila. "Holt-Oram Syndrome." Encyclopedia. Web. 23 December, 2020.

Holt-Oram Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/holt-oram-syndrome

Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems.

genetic conditions

References

Basson CT, Cowley GS, Solomon SD, Weissman B, Poznanski AK, Traill TA, SeidmanJG, Seidman CE. The clinical and genetic spectrum of the Holt-Oram syndrome(heart-hand syndrome). N Engl J Med. 1994 Mar 31;330(13):885-91. Erratum in: NEngl J Med 1994 Jun 2;330(22):1627.
Boogerd CJ, Dooijes D, Ilgun A, Mathijssen IB, Hordijk R, van de Laar IM, RumpP, Veenstra-Knol HE, Moorman AF, Barnett P, Postma AV. Functional analysis ofnovel TBX5 T-box mutations associated with Holt-Oram syndrome. Cardiovasc Res.2010 Oct 1;88(1):130-9. doi: 10.1093/cvr/cvq178.Cardiovasc Res. 2011 Jan 1;89(1):253. Mathijssen, Inge B [added].
Cerbai E, Sartiani L. Holt-oram syndrome and atrial fibrillation: opening the (T)-box. Circ Res. 2008 Jun 6;102(11):1304-6. doi: 10.1161/CIRCRESAHA.108.178079.
Chryssostomidis G, Kanakis M, Fotiadou V, Laskari C, Kousi T, Apostolidis C,Azariadis P, Chatzis A. Diversity of congenital cardiac defects and skeletaldeformities associated with the Holt-Oram syndrome. Int J Surg Case Rep.2014;5(7):389-92. doi: 10.1016/j.ijscr.2014.04.034.
Debeer P, Race V, Gewillig M, Devriendt K, Frijns JP. Novel TBX5 mutations in patients with Holt-Oram syndrome. Clin Orthop Relat Res. 2007 Sep;462:20-6.
Hatcher CJ, McDermott DA. Using the TBX5 transcription factor to grow andsculpt the heart. Am J Med Genet A. 2006 Jul 1;140(13):1414-8. Review.
Huang T, Lock JE, Marshall AC, Basson C, Seidman JG, Seidman CE. Causes ofclinical diversity in human TBX5 mutations. Cold Spring Harb Symp Quant Biol.2002;67:115-20.
McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F,Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL,Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M,Basson CT. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res. 2005 Nov;58(5):981-6.
McDermott DA, Fong JC, Basson CT. Holt-Oram Syndrome. 2004 Jul 20 [updated2019 May 23]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1111/
Mori AD, Bruneau BG. TBX5 mutations and congenital heart disease: Holt-Oramsyndrome revealed. Curr Opin Cardiol. 2004 May;19(3):211-5. Review.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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