Acrocallosal Syndrome

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Yang, C. Acrocallosal Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4390 (accessed on 22 September 2026).

Yang C. Acrocallosal Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4390. Accessed September 22, 2026.

Yang, Catherine. "Acrocallosal Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4390 (accessed September 22, 2026).

Yang, C. (2020, December 23). Acrocallosal Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4390

Yang, Catherine. "Acrocallosal Syndrome." Encyclopedia. Web. 23 December, 2020.

Acrocallosal Syndrome

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

Acrocallosal syndrome is a rare condition characterized by a brain abnormality called agenesis of the corpus callosum, the presence of extra fingers and toes (polydactyly), and distinctive facial features. The signs and symptoms of this disorder are present at birth, and their severity varies widely among affected individuals.

genetic conditions

References

Courtens W, Vamos E, Christophe C, Schinzel A. Acrocallosal syndrome in anAlgerian boy born to consanguineous parents: review of the literature and furtherdelineation of the syndrome. Am J Med Genet. 1997 Mar 3;69(1):17-22.
Elson E, Perveen R, Donnai D, Wall S, Black GC. De novo GLI3 mutation inacrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects andoverlap with murine models. J Med Genet. 2002 Nov;39(11):804-6.
Koenig R, Bach A, Woelki U, Grzeschik KH, Fuchs S. Spectrum of theacrocallosal syndrome. Am J Med Genet. 2002 Feb 15;108(1):7-11.
Putoux A, Nampoothiri S, Laurent N, Cormier-Daire V, Beales PL, Schinzel A,Bartholdi D, Alby C, Thomas S, Elkhartoufi N, Ichkou A, Litzler J, Munnich A,Encha-Razavi F, Kannan R, Faivre L, Boddaert N, Rauch A, Vekemans M, Attié-BitachT. Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. J Med Genet. 2012 Nov;49(11):713-20. doi: 10.1136/jmedgenet-2012-101016.
Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, GomesC, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joyé N, PruvostS, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A,Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N,Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attié-Bitach T. KIF7 mutations cause fetalhydrolethalus and acrocallosal syndromes. Nat Genet. 2011 Jun;43(6):601-6. doi:10.1038/ng.826.
Speksnijder L, Cohen-Overbeek TE, Knapen MF, Lunshof SM, Hoogeboom AJ, van denOuwenland AM, de Coo IF, Lequin MH, Bolz HJ, Bergmann C, Biesecker LG, WillemsPJ, Wessels MW. A de novo GLI3 mutation in a patient with acrocallosal syndrome. Am J Med Genet A. 2013 Jun;161A(6):1394-400. doi: 10.1002/ajmg.a.35874.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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