Oculodentodigital Dysplasia

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Xu, R. Oculodentodigital Dysplasia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4646 (accessed on 29 September 2026).

Xu R. Oculodentodigital Dysplasia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4646. Accessed September 29, 2026.

Xu, Rita. "Oculodentodigital Dysplasia" Encyclopedia, https://encyclopedia.pub/entry/4646 (accessed September 29, 2026).

Xu, R. (2020, December 24). Oculodentodigital Dysplasia. In Encyclopedia. https://encyclopedia.pub/entry/4646

Xu, Rita. "Oculodentodigital Dysplasia." Encyclopedia. Web. 24 December, 2020.

Oculodentodigital Dysplasia

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

Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital).

genetic conditions

References

Debeer P, Van Esch H, Huysmans C, Pijkels E, De Smet L, Van de Ven W,Devriendt K, Fryns JP. Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD). Eur J Med Genet. 2005 Oct-Dec;48(4):377-87.
Frasson M, Calixto N, Cronemberger S, de Aguiar RA, Leão LL, de Aguiar MJ.Oculodentodigital dysplasia: study of ophthalmological and clinicalmanifestations in three boys with probably autosomal recessive inheritance.Ophthalmic Genet. 2004 Sep;25(3):227-36. Review.
Joss SK, Ghazawy S, Tomkins S, Ahmed M, Bradbury J, Sheridan E. Variableexpression of neurological phenotype in autosomal recessive oculodentodigitaldysplasia of two sibs and review of the literature. Eur J Pediatr. 2008Mar;167(3):341-5.
Laird DW. Closing the gap on autosomal dominant connexin-26 and connexin-43mutants linked to human disease. J Biol Chem. 2008 Feb 8;283(6):2997-3001.
Laird DW. Life cycle of connexins in health and disease. Biochem J. 2006 Mar15;394(Pt 3):527-43. Review.
Loddenkemper T, Grote K, Evers S, Oelerich M, Stögbauer F. Neurologicalmanifestations of the oculodentodigital dysplasia syndrome. J Neurol. 2002May;249(5):584-95.
Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW. Connexin 43 (GJA1) mutationscause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet.2003 Feb;72(2):408-18.
Shibayama J, Paznekas W, Seki A, Taffet S, Jabs EW, Delmar M, Musa H.Functional characterization of connexin43 mutations found in patients withoculodentodigital dysplasia. Circ Res. 2005 May 27;96(10):e83-91.
van Steensel MA, Spruijt L, van der Burgt I, Bladergroen RS, Vermeer M,Steijlen PM, van Geel M. A 2-bp deletion in the GJA1 gene is associated withoculo-dento-digital dysplasia with palmoplantar keratoderma. Am J Med Genet A.2005 Jan 15;132A(2):171-4.
Vreeburg M, de Zwart-Storm EA, Schouten MI, Nellen RG, Marcus-Soekarman D,Devies M, van Geel M, van Steensel MA. Skin changes in oculo-dento-digitaldysplasia are correlated with C-terminal truncations of connexin 43. Am J MedGenet A. 2007 Feb 15;143(4):360-3.
Wiest T, Herrmann O, Stögbauer F, Grasshoff U, Enders H, Koch MJ,Grond-Ginsbach C, Schwaninger M. Clinical and genetic variability ofoculodentodigital dysplasia. Clin Genet. 2006 Jul;70(1):71-2.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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