{"orpha":57782,"name":"Mazabraud syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Myxoma with fibrous dysplasia"],"definition":"Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-57782/","orphanet_url":"https://www.orpha.net/en/disease/detail/57782","names":{"fr":{"name":"Syndrome de Mazabraud","synonyms":["Syndrome de myxome-dysplasie fibreuse"],"definition":"Dysplasie osseuse primaire rare caractérisée par l'association d'une dysplasie fibreuse et de myxomes intramusculaires. La dysplasie fibreuse (généralement polyostotique, parfois monostotique) survient pendant la période de croissance et peut être asymptomatique ou se manifester par des douleurs, des déformations squelettiques ou des fractures, tandis que le myxome intramusculaire, associé à la dysplasie fibreuse polyostotique est généralement multifocal, se développe typiquement à proximité des lésions squelettiques et se présente à l'âge adulte sous la forme d'une masse indolore des tissus mous (le plus souvent au niveau de la cuisse). Bien qu'il s'agisse d'une affection bénigne, des cas de récidive locale de myxomes après une excision incomplète et une transformation maligne d'une lésion de dysplasie fibreuse en ostéosarcome ont été rapportés."},"de":{"name":"Mazabraud-Syndrom","synonyms":["Myxom mit fibröser Dysplasie"],"definition":"Das Mazabraud-Syndrom ist eine seltene primäre Knochendysplasie (s. dort), die durch die Verbindung von faseriger Dysplasie mit intramuskulären Myxomen gekennzeichnet ist. Die faserige Dysplasie (meist polyostotisch, manchmal monostotisch) tritt während der Wachstumsperiode auf und kann asymptomatisch sein oder mit Schmerzen, Skelettdeformitäten oder Frakturen einhergehen, während das intramuskuläre Myxom, verbunden mit der polyostotischen faserigen Dysplasie (siehe diesen Begriff), meist multifokal ist, typischerweise in der Nähe von Skelettläsionen auftritt und im Erwachsenenalter als schmerzlose Weichteilmasse (am häufigsten im Oberschenkel) vorliegt. Obwohl es sich um eine gutartige Erkrankung handelt, wurden lokale Rezidive von Myxomen nach unvollständiger Entfernung und bösartiger Umwandlung einer faserigen dysplastischen Läsion in ein osteogenes Sarkom berichtet."},"es":{"name":"Síndrome de Mazabraud","definition":"El síndrome de Mazabraud es una displasia ósea primaria rara (consulte este término) caracterizada por la asociación de displasia fibrosa y mixomas intramusculares. La displasia fibrosa (normalmente poliostótica, a veces monostótica) ocurre durante el periodo de crecimiento y puede ser asintomática o presentarse acompañada de dolor, deformaciones esqueléticas o fracturas mientras que el mixoma intramuscular, asociado con la displasia fibrosa ósea poliostótica (consulte este término) es normalmente multifocal, generalmente dándose en las proximidades de las lesiones esqueléticas, y se presenta en la edad adulta como una masa de tejido blando indolora (normalmente en el muslo). Aunque es una condición benigna, se ha descrito la recurrencia local de mixomas tras una extirpación incompleta y la transformación maligna de una lesión displásica fibrosa en un sarcoma osteogénico."},"it":{"name":"Sindrome di Mazabraud","synonyms":["Mixoma con displasia fibrosa"],"definition":"La sindrome di Mazabraud è una displasia scheletrica primitiva (si veda questo termine) rara, caratterizzata dall'associazione tra la displasia fibrosa ed i mixomi intramuscolari. La displasia fibrosa (di solito poliostotica, talvolta monostotica) esordisce durante il periodo della crescita e può essere asintomatica o presentarsi con dolore, deformità o fratture scheletriche, mentre il mixoma intramuscolare associato alla displasia fibrosa poliostotica (si veda questo termine) è di solito multifocale e si sviluppa tipicamente in prossimità delle lesioni scheletriche e, nell'età adulta, si manifesta come massa indolore nei tessuti molli (più spesso nella coscia). Anche se la malattia è benigna, sono state descritte recidive locali dei mixomi, dopo escissione incompleta, nonché la trasformazione maligna della lesione displastica fibrosa in un sarcoma osteogenico."},"nl":{"name":"Syndroom van Mazabraud","synonyms":["Myxoom met fibreuze dysplasie"],"definition":"Mazabraudsyndroom is een zeldzame primaire botdysplasie (zie deze term) gekenmerkt door de associatie van fibreuze dysplasie met intramusculaire myxomen. Fibreuze dysplasie (meestal polyostotisch, soms monostotisch) treedt op tijdens de groeiperiode en kan asymptomatisch zijn of kan zich presenteren met pijn, skeletmisvormingen of breuken, terwijl intramusculair myxoom, geassocieerd met polyostotische fibreuze dysplasie (zie deze term), meestal multifocaal is, typisch optreedt in de buurt van skeletlaesies en zich presenteert in de volwassenheid als een pijnloze wekedelenmassa (meest voorkomend in de dij). Hoewel het om een goedaardige aandoening gaat, werden lokaal terugkerende myxomen na onvolledige excisie en kwaadaardige transformatie van een fibreuze dysplastische laesie in een osteogene sarcoom gerapporteerd."},"pt":{"name":"Síndrome de Mazabraud","synonyms":["Mixoma com displasia fibrosa"]},"pl":{"name":"Zespół Mazabrauda","synonyms":["Śluzak z dysplazją włóknistą"]},"cs":{"name":"Mazabraudův syndrom","synonyms":["Myxom s fibrózní dysplázií"]},"uk":{"name":"Синдром Мазабрауда","synonyms":["Міксома з фіброзною дисплазією"],"definition":"Mazabraud syndrome is a rare primary bone dysplasia (see this term) characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia (see this term) is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported."},"zh":{"name":"Mazabraud综合征","synonyms":["黏液瘤伴骨纤维异常增殖症"]},"tr":{"name":"Mazabraud sendromu","synonyms":["Lifli displazili miksoma"]}},"xrefs":[{"source":"ICD-10","code":"M85.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB80.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1153435718"},{"source":"MONDO","code":"0018933","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3697137","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081724","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93450,"name":"Primary bone dysplasia with disorganized development of skeletal components","classifications":[147,156,199]},{"orpha":71209,"name":"Rare soft tissue tumor","classifications":[202]}],"children":[],"genes":[{"symbol":"GNAS","name":"GNAS complex locus","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"19287459[PMID]_22609175[PMID]","hgnc":"4392","ensembl":"ENSG00000087460","omim":"139320","loci":["20q13.32"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":54.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010734","label":"Fibrous dysplasia of the bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Occasional (29-5%)","criteria":null}]}}