{"orpha":435329,"name":"Familial ossifying fibroma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial Gigantiform cementoma","Multiple ossifying fibroma"],"definition":"A rare genetic bone disease characterized by multifocal, painless, benign fibrocemento-osseous lesions of the jaws which expand progressively and can cause severe facial deformity. It usually manifests at an early age and is often associated with abnormalities of the long bones and pathologic fractures. Radiologically, the lesions are of mixed radiopaque/radiolucent appearance. Incomplete surgical removal may lead to more rapid growth of the residual lesion.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-435329/","orphanet_url":"https://www.orpha.net/en/disease/detail/435329","names":{"fr":{"name":"Fibrome ossifiant familial","synonyms":["Fibrome ossifiant multiple"],"definition":"Maladie osseuse rare d'origine génétique caractérisée par des lésions tumorales cémento-ossifiantes multifocales, indolores et bénignes de la mandibule dont l'extension est progressive et qui peuvent causer une malformation faciale sévère. La maladie se manifeste généralement à un âge précoce et est souvent associée à des anomalies des os longs et à des fractures pathologiques. Les examens radiologiques mettent en évidence des lésions d'aspect mixte radio-opaque/radio-transparent. Une ablation chirurgicale incomplète peut entraîner une accélération de la croissance des lésions résiduelles."},"de":{"name":"Familiäres ossifizierendes Fibrom","synonyms":["Multiple ossifizierende Fibrome"],"definition":"Eine seltene genetisch bedingte Knochenerkrankung, die durch multifokale, schmerzlose, gutartige fibrozementös-knöcherne Läsionen der Kiefer gekennzeichnet ist, die sich progressiv ausbreiten und schwere Fehlbildungen im Gesicht verursachen können. Sie manifestiert sich in der Regel in jungen Jahren und ist häufig mit Anomalien der langen Knochen und pathologischen Frakturen verbunden. Radiologisch sind die Läsionen von gemischtem röntgendichtem/radiolucentem Aussehen. Eine unvollständige chirurgische Entfernung kann zu einem schnelleren Wachstum der verbleibenden Läsion führen."},"es":{"name":"Fibroma osificante familiar","synonyms":["Cementoma gigantiforme familiar","Fibroma osificante múltiple"],"definition":"Es una enfermedad ósea de base genética poco frecuente caracterizada por lesiones maxilares fibrocemento-óseas benignas, indoloras y multifocales, que se expanden progresivamente, pudiendo causar una deformidad facial grave. Por lo general, debuta a una edad temprana y suele asociar anomalías de los huesos largos y fracturas patológicas. Radiológicamente, las lesiones muestran un aspecto mixto radiopaco/radiolúcido. La resección quirúrgica incompleta puede provocar un crecimiento más rápido de la lesión residual."},"it":{"name":"Fibroma ossificante familiare","synonyms":["Cementoma gigante familiare","Fibroma ossificante multiplo"],"definition":"Si tratta di una malattia scheletrica rara, di origine genetica, caratterizzata da lesioni fibrocemento-ossee multifocali, indolori e benigne delle ossa mascellari che si espandono progressivamente e possono causare gravi deformità facciali. Di solito esordisce precocemente e spesso si associa ad anomalie delle ossa lunghe e a fratture patologiche. Dal punto di vista radiologico, le lesioni hanno un aspetto misto radiopaco/radiolucente. La rimozione chirurgica incompleta può causare una crescita più rapida della lesione residuale."},"nl":{"name":"Familiaal ossificerend fibroom","synonyms":["Familiaal gigantiform cementoom","Meervoudig ossificerend fibroom"],"definition":"Een zeldzame, genetische aandoening van bot, gekarakteriseerd door multifocale, pijnloze, goedaardige fibrocemento-osseuze laesies van kaak die progressief uitbreiden en ernstige misvorming van het aangezicht kunnen veroorzaken. Het manifesteert zich meestal op jonge leeftijd, en is vaak geassocieerd met afwijkingen van de pijpbeenderen en pathologische fracturen. Radiologisch hebben de laesies een gemengd radio-opaak/radiolucent uiterlijk. Onvolledige operatieve verwijdering kan leiden tot snellere groei van de resterende laesie."},"pt":{"name":"Fibroma ossificante familiar","synonyms":["Fibroma ossificante múltiplo"]},"pl":{"name":"Rodzinny włókniak kostniejący","synonyms":["Familial Gigantiform cementoma","Multiple ossifying fibroma"]},"cs":{"name":"Familiární osifikující fibrom","synonyms":["Mnohočetný osifikující fibrom"]},"uk":{"name":"Сімейна осифікуюча фіброма","synonyms":["Сімейна гігантоподібна цементома","Множинна осифікуюча фіброма"],"definition":"A rare genetic bone disease characterized by multifocal, painless, benign fibrocemento-osseous lesions of the jaws which expand progressively and can cause severe facial deformity. It usually manifests at an early age and is often associated with abnormalities of the long bones and pathologic fractures. Radiologically, the lesions are of mixed radiopaque/radiolucent appearance. Incomplete surgical removal may lead to more rapid growth of the residual lesion."},"zh":{"name":"家族性骨化性纤维瘤","synonyms":["多发性骨化纤维瘤"]},"tr":{"name":"Ailesel kemikleşen fibroma","synonyms":["Çoklu kemikleşen fibroma"]}},"xrefs":[{"source":"OMIM","code":"137575","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D16.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2E83.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007660","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563017","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3495361","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081225","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":183527,"name":"Genetic bone tumor","classifications":[156]},{"orpha":68411,"name":"Rare bone tumor","classifications":[199,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}