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Otodental syndrome
Otodental syndrome, also known as otodental dysplasia, is an exceptionally rare disease that is distinguished by a specific phenotype known as globodontia, that in rare cases can be associated with eye coloboma and high frequency hearing loss. Globodontia is an abnormal condition that can occur in both the primary and secondary dentition, except for the incisors which are normal in shape and size.〔〔〔 This is demonstrated by significant enlargement of the canine and molar teeth.〔Bloch-Zupan, Agnès, and Jane R. Goodman. "Otodental Syndrome." National Center for Biotechnology Information. U.S. National Library of Medicine, 21 Mar. 2006. Web. 03 Mar. 2014. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1459122〕 The premolars are either reduced in size or are absent.〔Chen, Ren-Jye, Horng-Sen Chen, Li-Min Lin, Cheng-Chung Lin, and Ronald J. Jorgenson. "“Otodental” Dysplasia." Oral Surgery, Oral Medicine, Oral Pathology 66.3 (1988): 353-58〕 In some cases, the defects affecting the teeth, eye and ear can be either individual or combined.〔Gregory-Evans, C. Y., M. Moosajee, M. D. Hodges, D. S. Mackay, L. Game, N. Vargesson, A. Bloch-Zupan, F. Ruschendorf, L. Santos-Pinto, G. Wackens, and K. Gregory-Evans. "SNP Genome Scanning Localizes Oto-dental Syndrome to Chromosome 11q13 and Microdeletions at This Locus Implicate FGF3 in Dental and Inner-ear Disease and FADD in Ocular Coloboma." Human Molecular Genetics 16.20 (2007): 2482-493〕 When these conditions are combined with eye coloboma, the condition is also known as oculo-otodental syndrome. The first known case of otodental syndrome was found in Hungary in a mother and her son by Denes and Csiba in 1969.〔Denes J, Csiba A. An unusual case of hereditary developmental anomalies of the cuspids and molars.Fogorv Sz. 1969;62:208–212. ()〕 Prevalence is less than 1 out of every 1 million individuals.〔Bloch-Zupan, Agnès. "The Portal for Rare Diseases and Orphan Drugs."Orphanet: Otodental Syndrome. N.p., Last Updated Nov. 2010. Web. 03 Mar. 2014. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2791〕
The cause of otodental syndrome is considered to be genetic. It is an autosomal dominant inheritance and is variable in its expressivity.〔Santos-Pinto L, Oviedo M, Santos-Pinto A, Iost HI, Seale NS, Reddy AK. Otodental syndrome: three familial case reports. Pediatr Dent. 1998;20:208–211〕 Haploinsufficiency in the fibroblast growth factor 3 (FGF3) gene (11q13) has been reported in patients with otodental syndrome and is thought to cause the phenotype.〔 Both males and females are equally affected. Individuals diagnosed with otodental syndrome can be of any age; age is not a relevant factor.
Currently there are no specific genetic treatments for otodental syndrome. Dental and orthodontic management are the recommended course of action.〔
== Mechanism ==
Otodental syndrome is a rare condition that is genetically inherited in an autosomal dominant manner. Although there is no specific biological mechanism for otodental syndrome, what is recognized is that there is a genetic mutation, known as haploinsufficiency, that occurs in the fibroblast growth factor 3 (FGF3) gene (11q13). This is the alleged cause of the physical abnormalities and symptoms associated with otodental syndrome. Although in individuals with signs of ocular coloboma, a microdeletion in the Fas-associated death domain (FADD) gene (11q13.3) was also found to be responsible. There is variable penetrance and variable gene expression within these genetic mutations.〔 Individuals with sensorineural hearing loss are believed to have a local lesion in the auditory segment of the inner ear, known as the cochlea. The biological mechanism for this is currently unknown as well.〔
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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