{"orpha":2485,"name":"Melorheostosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2485/","orphanet_url":"https://www.orpha.net/en/disease/detail/2485","names":{"fr":{"name":"Mélorhéostose","definition":"Une anomalie rare du développement embryonnaire caractérisée par une dysplasie osseuse sclérosante, généralement limitée à un côté du corps (rarement bilatéral), qui se manifeste par de la douleur, des raideurs, des contractures articulaires et des malformations."},"de":{"name":"Melorheostose","definition":"Melorheostose ist eine seltene Bindegewebserkrankung, die durch eine sklerosierende Knochendysplasie gekennzeichnet ist, die sich meist auf eine Körperseite beschränkt (selten bilateral) und die sich durch Schmerzen, Steifigkeit, Gelenkkontrakturen und Fehlbildungen manifestiert."},"es":{"name":"Melorreostosis","definition":"La melorreostosis es un trastorno raro del tejido conectivo caracterizado por una displasia ósea esclerosante, por lo general limitada a un lado del cuerpo (raramente bilateral), que se manifiesta con dolor, rigidez, contracturas articulares y deformaciones."},"it":{"name":"Meloreostosi","definition":"La meloreostosi è una malattia rara del tessuto connettivo, caratterizzata da displasia ossea sclerosante, di solito limitata a un lato del corpo (raramente è bilaterale), che si manifesta con dolore, rigidità, contratture articolari e deformità."},"nl":{"name":"Meloreostose","definition":"Melorheostose is een zeldzame bindweefselaandoening en wordt gekenmerkt door een scleroserende botdysplasie, meestal beperkt tot één zijde van het lichaam (zelden bilateraal), die zich manifesteert met pijn, stijfheid, gewrichtscontracturen en misvormingen."},"pt":{"name":"Melorreostose"},"pl":{"name":"Choroba Leriego"},"cs":{"name":"Melorheostóza"},"uk":{"name":"Мелореостоз","definition":"Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities."},"zh":{"name":"肢骨纹状肥大症"},"tr":{"name":"Meloreostoz"}},"xrefs":[{"source":"OMIM","code":"155950","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M85.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LD24.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"312433776"},{"source":"MONDO","code":"0007970","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D008557","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0025239","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9474","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10050284","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":2781,"name":"Osteopetrosis and related disorders","classifications":[147,156,199,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.09,"area":"Europe","status":"Validated","source":"9040882[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-12-07","source":null,"terms":[{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011987","label":"Ectopic ossification in muscle tissue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100774","label":"Hyperostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100560","label":"Upper limb asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100784","label":"Peripheral arteriovenous fistula","frequency":"Occasional (29-5%)","criteria":null}]}}