Oral-Facial-Digital Syndrome

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1		Rita Xu	+ 810 word(s)	810	2020-12-15 07:33:54

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Xu, R. Oral-Facial-Digital Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4791 (accessed on 28 September 2026).

Xu R. Oral-Facial-Digital Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4791. Accessed September 28, 2026.

Xu, Rita. "Oral-Facial-Digital Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4791 (accessed September 28, 2026).

Xu, R. (2020, December 24). Oral-Facial-Digital Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4791

Xu, Rita. "Oral-Facial-Digital Syndrome." Encyclopedia. Web. 24 December, 2020.

Oral-Facial-Digital Syndrome

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

Oral-facial-digital syndrome is actually a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).

genetic conditions

References

Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, SelicorniA, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R,Ballabio A, Franco B. Identification of the gene for oral-facial-digital type Isyndrome. Am J Hum Genet. 2001 Mar;68(3):569-76.
Gurrieri F, Franco B, Toriello H, Neri G. Oral-facial-digital syndromes:review and diagnostic guidelines. Am J Med Genet A. 2007 Dec 15;143A(24):3314-23.Review.
Macca M, Franco B. The molecular basis of oral-facial-digital syndrome, type1. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):318-25. doi:10.1002/ajmg.c.30224. Review.
Nowaczyk MJ, Zeesman S, Whelan DT, Wright V, Feather SA. Oral-facial-digitalsyndrome VII is oral-facial-digital syndrome I: a clarification. Am J Med GenetA. 2003 Dec 1;123A(2):179-82.
Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B;Oral-Facial-Digital Type I (OFDI) Collaborative Group. Mutational spectrum of theoral-facial-digital type I syndrome: a study on a large collection of patients.Hum Mutat. 2008 Oct;29(10):1237-46. doi: 10.1002/humu.20792.
Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A,Maystadt I, Cosyns JP, Jouk PS, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M,Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon JB, Huet F, Thauvin-Robinet C. Renal insufficiency, a frequentcomplication with age in oral-facial-digital syndrome type I. Clin Genet. 2010Mar;77(3):258-65. doi: 10.1111/j.1399-0004.2009.01290.x.
Siebert JR. The oral-facial-digital syndromes. Handb Clin Neurol.2008;87:341-51. doi: 10.1016/S0072-9752(07)87018-7.
Thauvin-Robinet C, Cossée M, Cormier-Daire V, Van Maldergem L, Toutain A,Alembik Y, Bieth E, Layet V, Parent P, David A, Goldenberg A, Mortier G, Héron D,Sagot P, Bouvier AM, Huet F, Cusin V, Donzel A, Devys D, Teyssier JR, Faivre L.Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. J Med Genet. 2006 Jan;43(1):54-61.
Toriello HV. Are the oral-facial-digital syndromes ciliopathies? Am J MedGenet A. 2009 May;149A(5):1089-95. doi: 10.1002/ajmg.a.32799. Review.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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