{"orpha":99806,"name":"Oculootodental syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["OOD"],"definition":"A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99806/","orphanet_url":"https://www.orpha.net/en/disease/detail/99806","names":{"fr":{"name":"Syndrome oculo-oto-dentaire","synonyms":["Syndrome OOD"],"definition":"Syndrome des gènes contigus comprenant un syndrome oto-dentaire (caractérisé par une globodontie et une déficience auditive à haute fréquence) associé à des anomalies oculaires comprenant, typiquement, un colobome irien et choriorétinien, ainsi que, occasionnellement, une microcornée, une microphtalmie, une opacité du cristallin, un colobome du cristallin et une atrophie de l'épithélium pigmentaire de l'iris."},"de":{"name":"Okulo-otodentales Syndrom (OOD)"},"es":{"name":"Síndrome óculo-oto-dental","synonyms":["OOD"],"definition":"Es un síndrome de genes contiguos que comprende el síndrome oto-dental (caracterizado por globodoncia y déficit auditivo neurosensorial de altas frecuencias) asociado a anomalías oculares que incluyen, típicamente, coloboma coriorretiniano y del iris, así como, ocasionalmente, microcórnea, microftalmia, opacidad lenticular, coloboma del cristalino y atrofia del epitelio pigmentario del iris."},"it":{"name":"Sindrome oculo-oto-dentale","synonyms":["OOD"],"definition":"La sindrome oculo-oto-dentale è una sindrome da geni contigui che comprende la sindrome oto-dentale (caratterizzata da globodontia e sordità neurosensoriale alle alte frequenze) associata ad anomalie oculari, che di solito comprendono il coloboma corioretinico e dell'iride e, occasionalmente, la microcronea, il microftalmo, l'opacità e il coloboma del cristallino e l'atrofia dell'epitelio pigmentato dell'iride."},"nl":{"name":"Oculo-otodentaal syndroom","synonyms":["OOD"],"definition":"Een 'contiguous gene'-syndroom (aangrenzende-genensyndroom) bestaande uit otodentaal syndroom (gekarakteriseerd door globodontie en sensorineuraal hoogtonig gehoorverlies) geassocieerd met oogafwijkingen, waaronder doorgaans coloboom van regenboog-, vaat- en netvlies, maar soms ook microcornea, microftalmie, lenstroebeling, coloboom van lens, en atrofie van pigmentepitheel van iris."},"pt":{"name":"Síndrome oculo-oto-dentária","synonyms":["OOD"]},"pl":{"name":"Zespół oczno-zębowy","synonyms":["OOD"],"definition":"*Zespół oczno-zębowy to zespół genów przyległych, na który składa się zespół uszno–zębowy (charakteryzujący się globodoncją – niezwykłym wyglądem uzębienia i zmysłowo-nerwowym ubytkiem słuchu w zakresie wysokich częstotliwości) oraz nieprawidłowości narządu wzroku, takie jak szczelina (coloboma) tęczówki, naczyniówki i siatkówki, a także, niekiedy, mała rogówka, małoocze, zmętnienie soczewki, coloboma soczewki oraz zanik nabłonka barwnikowego tęczówki."},"cs":{"name":"Okulootodentální syndrom","synonyms":["OOD"]},"uk":{"name":"Оковухозубний синдром","synonyms":["OOD"],"definition":"A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy."},"zh":{"name":"眼-耳-牙综合征","synonyms":["OOD"],"definition":"眼-耳-牙综合征是一种毗连的基因综合征，包括耳牙综合征(以球齿畸形和感觉神经性高频听力障碍为特征)和眼睛异常，后者通常涉及虹膜和脉络膜视网膜缺损，有时还会出现小角膜、小眼、晶状体混浊、晶状体缺损和虹膜色素上皮萎缩。"},"tr":{"name":"Okülootodental sendrom","synonyms":["OOD"]}},"xrefs":[{"source":"OMIM","code":"166750","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K07.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0020494","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2750325","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":262092,"name":"Partial deletion of the long arm of chromosome 11 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"FADD","name":"Fas associated via death domain","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"17656375[PMID]","hgnc":"3573","ensembl":"ENSG00000168040","omim":"602457","loci":["11q13.3"]},{"symbol":"FGF3","name":"fibroblast growth factor 3","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"17656375[PMID]","hgnc":"3681","ensembl":"ENSG00000186895","omim":"164950","loci":["11q13.3"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"12147582[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12147582[PMID]"}],"phenotypes":null}