Nager Syndrome

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Xu, R. Nager Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4466 (accessed on 27 September 2026).

Xu R. Nager Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4466. Accessed September 27, 2026.

Xu, Rita. "Nager Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4466 (accessed September 27, 2026).

Xu, R. (2020, December 23). Nager Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4466

Xu, Rita. "Nager Syndrome." Encyclopedia. Web. 23 December, 2020.

Nager Syndrome

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

Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms. The severity of this disorder varies among affected individuals.

genetic conditions

References

Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM,Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, LauzonJ, Fernandez BA, McMillin M, Scott RH, Racher H; FORGE Canada Consortium,Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS.Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex,causes Nager syndrome. Am J Hum Genet. 2012 May 4;90(5):925-33. doi:10.1016/j.ajhg.2012.04.004.
Cassina M, Cerqua C, Rossi S, Salviati L, Martini A, Clementi M, Trevisson E. A synonymous splicing mutation in the SF3B4 gene segregates in a family withhighly variable Nager syndrome. Eur J Hum Genet. 2017 Feb;25(3):371-375. doi:10.1038/ejhg.2016.176.
Couyoumjian CA, Treadwell MC, Barr M. Prenatal sonographic diagnosis of Nager acrofacial dysostosis with unilateral upper limb involvement. Prenat Diagn. 2008 Oct;28(10):964-6. doi: 10.1002/pd.2074.
Czeschik JC, Voigt C, Alanay Y, Albrecht B, Avci S, Fitzpatrick D, Goudie DR, Hehr U, Hoogeboom AJ, Kayserili H, Simsek-Kiper PO, Klein-Hitpass L, Kuechler A, López-González V, Martin M, Rahmann S, Schweiger B, Splitt M, Wollnik B, Lüdecke HJ, Zeschnigk M, Wieczorek D. Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. Hum Genet. 2013 Aug;132(8):885-98. doi:10.1007/s00439-013-1295-2.
Halonen K, Hukki J, Arte S, Hurmerinta K. Craniofacial structures and dentaldevelopment in three patients with Nager syndrome. J Craniofac Surg. 2006Nov;17(6):1180-7.
Herrmann BW, Karzon R, Molter DW. Otologic and audiologic features of Nageracrofacial dysostosis. Int J Pediatr Otorhinolaryngol. 2005 Aug;69(8):1053-9.
Ho AS, Aleshi P, Cohen SE, Koltai PJ, Cheng AG. Airway management in NagerSyndrome. Int J Pediatr Otorhinolaryngol. 2008 Dec;72(12):1885-8. doi:10.1016/j.ijporl.2008.09.007.
Petit F, Escande F, Jourdain AS, Porchet N, Amiel J, Doray B, Delrue MA, FloriE, Kim CA, Marlin S, Robertson SP, Manouvrier-Hanu S, Holder-Espinasse M. Nagersyndrome: confirmation of SF3B4 haploinsufficiency as the major cause. ClinGenet. 2014 Sep;86(3):246-51. doi: 10.1111/cge.12259.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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