{"orpha":249,"name":"Fibrous dysplasia of bone","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, benign, primary bone dysplasia characterized by progressive replacement of normal bone and marrow with fibrous connective tissue in either one (monostotic) or multiple (polyostotic) bones. Clinical manifestations depend on the anatomic location of the replacement and may include bone pain, deformities, pathological fractures, and cranial nerve deficits.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-249/","orphanet_url":"https://www.orpha.net/en/disease/detail/249","names":{"fr":{"name":"Dysplasie fibreuse des os","definition":"Dysplasie osseuse primaire rare et bénigne caractérisée par un remplacement progressif de l'os normal et de la moelle par un tissu conjonctif fibreux soit dans un os (forme monostotique) soit dans plusieurs os (forme polyostotique). Les manifestations cliniques dépendent de l'emplacement anatomique du remplacement et peuvent inclure douleurs osseuses, déformations, fractures pathologiques et atteinte des nerfs crâniens."},"de":{"name":"Knochendysplasie, fibröse","definition":"Eine seltene, gutartige, primäre Knochendysplasie, die durch einen fortschreitenden Ersatz von normalem Knochen und Knochenmark durch fibröses Bindegewebe in entweder einem (monostotisch) oder mehreren (polyostotisch) Knochen gekennzeichnet ist. Die klinischen Manifestationen hängen von der anatomischen Lage der ersetzten Substanz ab und können Knochenschmerzen, Deformierungen, pathologische Frakturen und Hirnnervendefizite nach sich ziehen."},"es":{"name":"Displasia fibrosa de hueso","synonyms":["Displasia ósea fibrosa"],"definition":"Es una displasia ósea primaria, benigna y poco frecuente, caracterizada por el reemplazo progresivo del tejido óseo y la médula ósea normales por tejido conectivo fibroso en uno (monostótica) o en múltiples (poliostótica) huesos. Las manifestaciones clínicas dependen de la localización anatómica del reemplazo, pudiendo incluir dolor óseo, deformidades, fracturas patológicas y déficits de los pares craneales."},"it":{"name":"Displasia fibrosa dell'osso","definition":"Si tratta di una displasia scheletrica primitiva benigna rara, caratterizzata dalla progressiva sostituzione dell'osso e del midollo da parte del tessuto connettivo fibroso in un osso (forma monostotica) o in più ossa (forma poliostotica). Il quadro clinico dipende dalla localizzazione della malattia e comprende il dolore osseo, le deformità, le fratture patologiche e i deficit dei nervi cranici."},"nl":{"name":"Fibreuze dysplasie van bot","definition":"Een zeldzame, goedaardige, primaire botdysplasie gekarakteriseerd door progressieve vervanging van normaal bot en beenmerg met fibreus bindweefsel in één (monostotisch) of meerdere (polyostotisch) botten. Klinische manifestaties zijn afhankelijk van de anatomische locatie van de vervanging en omvatten mogelijk botpijn, misvormingen, pathologische fracturen, en deficiëntie van hersenzenuwen."},"pt":{"name":"Displasia óssea fibrosa","definition":"Displasia óssea, rara e benigna, caracterizada pela substituição progressiva do osso e medula normais por tecido conjuntivo fibroso, num único osso (monostótica) ou em múltiplos ossos (poliostótica). As manifestações clínicas dependem da localização anatómica da substituição e podem incluir dor óssea, deformidades, fraturas patológicas e défices dos nervos cranianos."},"pl":{"name":"Dysplazja włóknista kości"},"cs":{"name":"Fibrózní kostní dysplázie"},"uk":{"name":"Фіброзна дисплазія кісток","definition":"A rare, benign, primary bone dysplasia characterized by progressive replacement of normal bone and marrow with fibrous connective tissue in either one (monostotic) or multiple (polyostotic) bones. Clinical manifestations depend on the anatomic location of the replacement and may include bone pain, deformities, pathological fractures, and cranial nerve deficits."},"zh":{"name":"骨纤维发育不良"},"tr":{"name":"Lifli kemik displazisi"}},"xrefs":[{"source":"ICD-10","code":"M85.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB80.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1704766818"},{"source":"MONDO","code":"0000845","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"845","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005357","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0259779","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6444","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10016664","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":595216,"name":"Fibrous dysplasia/McCune-Albright syndrome","classifications":[147,156,199]}],"children":[{"orpha":93277,"name":"Monostotic fibrous dysplasia","type":"Clinical subtype"},{"orpha":93276,"name":"Polyostotic fibrous dysplasia","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"GNAS","name":"GNAS complex locus","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"10535539[PMID]_10646121[PMID]","hgnc":"4392","ensembl":"ENSG00000087460","omim":"139320","loci":["20q13.32"],"via":{"orpha":93276,"name":"Polyostotic fibrous dysplasia"}},{"symbol":"GNAS","name":"GNAS complex locus","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"10535539[PMID]_10646121[PMID]","hgnc":"4392","ensembl":"ENSG00000087460","omim":"139320","loci":["20q13.32"],"via":{"orpha":93277,"name":"Monostotic fibrous dysplasia"}}],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-30","source":"23276185[PMID]_27492469[PMID]_27493082[PMID]_30471134[PMID]","terms":[{"hpo":"HP:0010734","label":"Fibrous dysplasia of the bones","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0009121","label":"Abnormal axial skeleton morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003330","label":"Abnormal bone structure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040064","label":"Abnormality of limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010668","label":"Abnormal zygomatic bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011821","label":"Abnormality of facial skeleton","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000277","label":"Abnormality of the mandible","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000326","label":"Abnormality of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031955","label":"Antalgic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005731","label":"Cortical irregularity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002148","label":"Hypophosphatemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010657","label":"Patchy reduction of bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002756","label":"Pathologic fracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002748","label":"Rickets","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002753","label":"Thin bony cortex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031095","label":"Abnormal humerus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100712","label":"Abnormal lumbar spine morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002818","label":"Abnormal morphology of the radius","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002696","label":"Abnormal parietal bone morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040163","label":"Abnormal pelvis bone morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009911","label":"Abnormal temporal bone morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003319","label":"Abnormality of the cervical spine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0430000","label":"Abnormality of the frontal bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012294","label":"Abnormality of the occipital bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0430022","label":"Abnormality of the sphenoid sinus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006316","label":"Irregularly spaced teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002749","label":"Osteomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000818","label":"Abnormality of the endocrine system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030428","label":"Cutaneous myxoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000845","label":"Elevated circulating growth hormone concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010514","label":"Hyperpituitarism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000836","label":"Hyperthyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003118","label":"Increased circulating cortisol level","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005605","label":"Large cafe-au-lait macules with irregular margins","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100013","label":"Neoplasm of the breast","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002669","label":"Osteosarcoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000138","label":"Ovarian cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010465","label":"Precocious puberty in females","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010788","label":"Testicular neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002890","label":"Thyroid carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Very rare (<4-1%)","criteria":null}]}}