Oculodentodigital dysplasia
Dernière mise à jour 3 mars 2025
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Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). The signs and symptoms of the condition vary widely among affected individuals. Some features of oculodentodigital dysplasia are evident at birth, while others become apparent with age.
Description
Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). The signs and symptoms of the condition vary widely among affected individuals. Some features of oculodentodigital dysplasia are evident at birth, while others become apparent with age.
People with oculodentodigital dysplasia often have eye abnormalities that can lead to vision loss. These eye problems can include underdeveloped and small eyes (microphthalmia) and clouding of the lenses of the eyes (cataracts). People with oculodentodigital dysplasia may also have a condition called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.
The tooth abnormalities seen in people with oculodentodigital dysplasia often include missing or small teeth, weak enamel, and early tooth loss.
The condition can also affect the fingers and toes. Individuals with oculodentodigital dysplasia may have permanently bent fingers (camptodactyly), fingers that are unusually curved (clinodactyly), webbing of the skin (syndactyly) between the fourth and fifth fingers, and syndactyly of the toes,
Individuals who have oculodentodigital dysplasia may also have abnormalities of the head and face (craniofacial anomalies), which can include a narrow nose, a small head size (microcephaly), and an opening in the roof of the mouth (cleft palate).
Less common features of oculodentodigital dysplasia include sparse hair growth (hypotrichosis); brittle nails; and a skin condition called palmoplantar keratoderma that causes the skin on the palms of the hands and the soles of the feet to become thick, scaly, and calloused.
Approximately 30 percent of people with oculodentodigital dysplasia experience neurological problems such as a lack of bladder or bowel control (incontinence), difficulty coordinating movements (ataxia), abnormal muscle stiffness (spasticity), and impaired speech (dysarthria). Some affected individuals develop abnormalities of the brain’s white matter that can be detected with medical imaging (leukodystrophy). Hearing loss and heart problems have also been reported in people with oculodentodigital dysplasia.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant+New variant. More than one pattern can apply in different cases.
Related genes
Other names
Meyer-Schwickerath syndrome
Meyer-Schwickerath-Weyers syndrome
Oculo-dento-digital dysplasia
Oculodentodigital dysplasia, autosomal recessive
Oculodentodigital syndrome
Oculodentodigitalis dysplasia
Oculodentoosseous dysplasia
ODD syndrome
ODDD
ODDD syndrome
ODDD, autosomal recessive
ODOD
ODOD syndrome
ODOD, autosomal recessive
Osseous-oculo-dental dysplasia
Related patient information and medicines
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Examens physiques pour nouveau-né
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Bébés prématurés
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Lectures complémentaires et références
- Oculodentodigital dysplasia; MedlinePlus, National Library of Medicine.
- 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. doi: 10.1016/j.ejmg.2005.05.003.
- Frasson M, Calixto N, Cronemberger S, de Aguiar RA, Leao LL, de Aguiar MJ. Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance. Ophthalmic Genet. 2004 Sep;25(3):227-36. doi: 10.1080/13816810490513424.
- Joss SK, Ghazawy S, Tomkins S, Ahmed M, Bradbury J, Sheridan E. Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature. Eur J Pediatr. 2008 Mar;167(3):341-5. doi: 10.1007/s00431-007-0468-1. Epub 2007 May 3.
- Laird DW. Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease. J Biol Chem. 2008 Feb 8;283(6):2997-3001. doi: 10.1074/jbc.R700041200. Epub 2007 Dec 18.
- Laird DW. Life cycle of connexins in health and disease. Biochem J. 2006 Mar 15;394(Pt 3):527-43. doi: 10.1042/BJ20051922.
- Loddenkemper T, Grote K, Evers S, Oelerich M, Stogbauer F. Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol. 2002 May;249(5):584-95. doi: 10.1007/s004150200068.
- Pace NP, Benoit V, Agius D, Grima MA, Parascandalo R, Hilbert P, Borg I. Two novel GJA1 variants in oculodentodigital dysplasia. Mol Genet Genomic Med. 2019 Sep;7(9):e882. doi: 10.1002/mgg3.882. Epub 2019 Jul 25.
- 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) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet. 2003 Feb;72(2):408-18. doi: 10.1086/346090. Epub 2002 Nov 27.
- Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergem L, Boyadjiev SA, Bodurtha JN, Jabs EW. GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Hum Mutat. 2009 May;30(5):724-33. doi: 10.1002/humu.20958.
- Shibayama J, Paznekas W, Seki A, Taffet S, Jabs EW, Delmar M, Musa H. Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia. Circ Res. 2005 May 27;96(10):e83-91. doi: 10.1161/01.RES.0000168369.79972.d2. Epub 2005 May 5.
- 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 with oculo-dento-digital dysplasia with palmoplantar keratoderma. Am J Med Genet A. 2005 Jan 15;132A(2):171-4. doi: 10.1002/ajmg.a.30412.
- 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-digital dysplasia are correlated with C-terminal truncations of connexin 43. Am J Med Genet A. 2007 Feb 15;143(4):360-3. doi: 10.1002/ajmg.a.31558.
- Wang Z, Sun L, Wang P, Chen C, Zhang A, Wang W, Ding X. Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review. Ophthalmic Genet. 2019 Feb;40(1):54-59. doi: 10.1080/13816810.2019.1571616. Epub 2019 Feb 15.
- Wiest T, Herrmann O, Stogbauer F, Grasshoff U, Enders H, Koch MJ, Grond-Ginsbach C, Schwaninger M. Clinical and genetic variability of oculodentodigital dysplasia. Clin Genet. 2006 Jul;70(1):71-2. doi: 10.1111/j.1399-0004.2006.00631.x. No abstract available.
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