Submitted Successfully!
To reward your contribution, here is a gift for you: A free trial for our video production service.
Thank you for your contribution! You can also upload a video entry or images related to this topic.
Version Summary Created by Modification Content Size Created at Operation
1 + 517 word(s) 517 2020-12-15 07:33:40

Video Upload Options

Do you have a full video?

Confirm

Are you sure to Delete?
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Xu, R. Oculodentodigital Dysplasia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4646 (accessed on 26 April 2024).
Xu R. Oculodentodigital Dysplasia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4646. Accessed April 26, 2024.
Xu, Rita. "Oculodentodigital Dysplasia" Encyclopedia, https://encyclopedia.pub/entry/4646 (accessed April 26, 2024).
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
Edit

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

genetic conditions

1. Introduction

Common features in people with this condition are small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. Affected individuals also frequently have tooth abnormalities, such as small or missing teeth, weak enamel, multiple cavities, and early tooth loss. Other common features of this condition include a thin nose and webbing of the skin (syndactyly) between the fourth and fifth fingers.

Less common features of oculodentodigital dysplasia include sparse hair growth (hypotrichosis), brittle nails, an unusual curvature of the fingers (camptodactyly), syndactyly of the toes, small head size (microcephaly), and an opening in the roof of the mouth (cleft palate). Some affected individuals experience neurological problems such as a lack of bladder or bowel control, difficulty coordinating movements (ataxia), abnormal muscle stiffness (spasticity), hearing loss, and impaired speech (dysarthria). A few people with oculodentodigital dysplasia also have a skin condition called palmoplantar keratoderma. Palmoplantar keratoderma causes the skin on the palms and the soles of the feet to become thick, scaly, and calloused.

Some features of oculodentodigital dysplasia are evident at birth, while others become apparent with age.

2. Frequency

The exact incidence of oculodentodigital dysplasia is unknown. It has been diagnosed in fewer than 1,000 people worldwide. More cases are likely undiagnosed.

3. Causes

Mutations in the GJA1 gene cause oculodentodigital dysplasia. The GJA1 gene provides instructions for making a protein called connexin 43. This protein forms one part (a subunit) of channels called gap junctions, which allow direct communication between cells. Gap junctions formed by connexin 43 proteins are found in many tissues throughout the body.

GJA1 gene mutations result in abnormal connexin 43 proteins. Channels formed with abnormal proteins are often permanently closed. Some mutations prevent connexin 43 proteins from traveling to the cell surface where they are needed to form channels between cells. Impaired functioning of these channels disrupts cell-to-cell communication, which likely interferes with normal cell growth and cell specialization, processes that determine the shape and function of many different parts of the body. These developmental problems cause the signs and symptoms of oculodentodigital dysplasia.

4. Inheritance

Most cases of oculodentodigital dysplasia are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Less commonly, oculodentodigital dysplasia can be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Fewer than ten cases of autosomal recessive oculodentodigital dysplasia have been reported.

5. Other Names for This Condition

  • oculo-dento-digital dysplasia
  • oculo-dento-osseous dysplasia
  • oculodentodigital syndrome
  • oculodentoosseous dysplasia
  • ODD syndrome
  • ODDD
  • ODOD
  • osseous-oculo-dental dysplasia

References

  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. Laird DW. Life cycle of connexins in health and disease. Biochem J. 2006 Mar15;394(Pt 3):527-43. Review.
  6. Loddenkemper T, Grote K, Evers S, Oelerich M, Stögbauer F. Neurologicalmanifestations of the oculodentodigital dysplasia syndrome. J Neurol. 2002May;249(5):584-95.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
  11. 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.
More
Information
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
View Times: 257
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
1000/1000