{"orpha":2709,"name":"Oculodental syndrome, Rutherfurd type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Gingival hypertrophy-corneal dystrophy","Rutherfurd syndrome"],"definition":"Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2709/","orphanet_url":"https://www.orpha.net/en/disease/detail/2709","names":{"fr":{"name":"Syndrome oculo-dentaire de Rutherfurd","synonyms":["Hypertrophie gingivale-dystrophie cornéenne","Syndrome de Rutherfurd"],"definition":"Maladie génétique rare caractérisée principalement par la triade classique associant fibromatose gingivale, absence d'éruption dentaire et dystrophie cornéenne (vascularisation et opacité bilatérales de la cornée). Des anomalies de forme des dents ont également été décrites. Le syndrome se transmet sur le mode autosomique dominant."},"de":{"name":"Okulo-dentales Syndrom Typ Rutherfurd","synonyms":["Gingivahypertrophie - Hornhautdystrophie","Rutherfurd-Syndrom"],"definition":"Das okulo-dentale Syndrom Typ Rutherfurd ist eine seltene genetische Erkrankung, die hauptsächlich durch die klassische Triade der gingivalen Fibromatose, fehlendem Zahndurchbruch und Hornhautdystrophie (bilaterale Hornhautvaskularisation und Opazität) gekennzeichnet ist. Zu den Begleiterscheinungen des Syndroms gehören abnormal geformte Zähne und aggressives Verhalten. Die Vererbung ist autosomal-dominant."},"es":{"name":"Síndrome óculo-dental tipo Rutherfurd","synonyms":["Hipertrofia gingival-distrofia corneal","Síndrome de Rutherfurd"],"definition":"Es un trastorno genético poco frecuente caracterizado principalmente por la tríada clásica de fibromatosis gingival, ausencia de erupción dentaria y distrofia corneal (vascularización corneal bilateral y opacidad). También se han descrito dientes de forma anómala. El síndrome se transmite siguiendo un patrón de herencia autosómico dominante."},"it":{"name":"Sindrome oculodentale, tipo Rutherfurd","synonyms":["Ipertrofia gengivale - distrofia corneale","Sindrome di Rutherfurd"],"definition":"La sindrome oculodentale, tipo Rutherfurd è una malattia genetica rara caratterizzata dalla triade fibromatosi gengivale, mancata eruzione dei denti e distrofia corneale (vascolarizzazione e opacità corneali bilaterali). Altri segni clinici associati sono le anomalie della forma dei denti e il comportamento aggressivo. La trasmissione è autosomica dominante."},"nl":{"name":"Oculodentaal syndroom, Rutherfurd-type","synonyms":["Gingivale hypertrofie - corneadystrofie","Rutherfurdsyndroom"],"definition":"Oculodentaal syndroom, Rutherfurd-type, is een zeldzame genetische stoornis die vooral gekarakteriseerd wordt door de klassieke triade van gingivale fibromatose, het niet uitkomen van tanden en corneadystrofie (bilaterale vascularisatie en opaciteit van het hoornvlies). Abnormaal gevormde tanden werden ook reeds gerapporteerd. Het syndroom wordt overgedragen als een autosomaal dominante eigenschap."},"pt":{"name":"Síndrome oculo-dentária, tipo Rutherfurd","synonyms":["Hipertrofia gengival-distrofia da córnea","Síndrome Rutherfurd"]},"pl":{"name":"Zespół oczno-zębowy, typ Rutherfurda","synonyms":["Przerost dziąseł - dystrofia rogówki","Zespół Rutherfurda"]},"cs":{"name":"Okulodentální syndrom, typ Rutherfurdové","synonyms":["Gingivální hypertrofie, korneální dystrofie","Rutherfurdové syndrom"]},"uk":{"name":"Окулодентальний синдром, тип Рутерфурда","synonyms":["Гіпертрофія ясен - дистрофія рогівки","Синдром Резерфорда"],"definition":"Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait."},"zh":{"name":"眼齿综合征，Rutherfurd型","synonyms":["牙龈肥大-角膜营养不良"]},"tr":{"name":"Okülodental sendrom, Rutherfurd tipi","synonyms":["Rutherfurd sendromu","Dişeti hipertrofisi-korneal distrofi"]}},"xrefs":[{"source":"OMIM","code":"180900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9A70.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"183543626"},{"source":"MONDO","code":"0008396","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537732","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796140","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"212","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":98628,"name":"Syndromic corneal dystrophy","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"25714557[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25714557[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-03-20","source":"26818898[PMID]_25714557[PMID]_18793596[PMID]","terms":[{"hpo":"HP:0001131","label":"Corneal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000169","label":"Gingival fibromatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005216","label":"Impaired mastication","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null}]}}