{"orpha":1822,"name":"Dysplasia epiphysealis hemimelica","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Trevor disease"],"definition":"A rare bone development disorder characterized by localized, asymmetric osteochondral overgrowth affecting single or multiple epiphyses, most commonly the distal femur, proximal tibia, and talus. The lesions are typically restricted to one side of the epiphysis, with the medial side being affected twice as often as the lateral side. The condition is usually diagnosed in children, and three times more often in boys than in girls. Patients present with pain, limitation in range of motion, and deformity or swelling of the affected joint.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1822/","orphanet_url":"https://www.orpha.net/en/disease/detail/1822","names":{"fr":{"name":"Dysplasie épiphysaire hémimélique","synonyms":["Maladie de Trevor"],"definition":"Maladie rare du développement osseux caractérisée par une croissance excessive ostéochondrale localisée et asymétrique affectant une ou plusieurs épiphyses, le plus souvent le fémur distal, le tibia proximal et le talus. Les lésions sont généralement limitées à un côté de l'épiphyse, le côté médial étant deux fois plus souvent touché que le côté latéral. La maladie est généralement diagnostiquée chez les enfants, et trois fois plus souvent chez les garçons que chez les filles. Les patients présentent des douleurs, une amplitude des mouvements limitée et une déformation ou un gonflement de l'articulation concernée."},"de":{"name":"Dysplasia epiphysealis hemimelica","synonyms":["Trevor-Krankheit"],"definition":"Eine seltene Störung der Knochenentwicklung, die durch eine lokalisierte, asymmetrische osteochondrale Proliferation gekennzeichnet ist, die eine oder mehrere Epiphysen betrifft, am häufigsten den distalen Femur, die proximale Tibia und den Talus. Die Läsionen sind im Allgemeinen auf eine Seite der Epiphyse beschränkt, wobei die mediale Seite doppelt so häufig betroffen ist wie die laterale Seite. Die Erkrankung wird in der Regel bei Kindern diagnostiziert, wobei Jungen dreimal häufiger betroffen sind als Mädchen. Die Patienten leiden unter Schmerzen, eingeschränkter Beweglichkeit und Fehlstellungen oder Schwellungen des betroffenen Gelenks."},"es":{"name":"Displasia epifisaria hemimélica","synonyms":["Enfermedad de Trevor"],"definition":"Es un trastorno poco frecuente del desarrollo óseo caracterizado por un sobrecrecimiento osteocondral asimétrico y localizado que afecta a una o varias epífisis, más comúnmente al fémur distal, tibia proximal y astrágalo. Las lesiones suelen estar restringidas a un lado de la epífisis, y la porción medial se ve afectada con el doble de frecuencia que la porción lateral. Por lo general, la entidad se diagnostica en niños, siendo tres veces más frecuente en varones. Los pacientes manifiestan dolor, limitación en el rango de movimiento y deformidad o inflamación de la articulación afectada."},"it":{"name":"Displasia epifisaria emimelica","synonyms":["Malattia di Trevor"],"definition":"Si tratta di una malattia rara dello sviluppo delle ossa, caratterizzata da un iperaccrescimento osteocondrale localizzato e asimmetrico che interessa una o più epifisi, di solito quelle della porzione distale del femore, della porzione prossimale della tibia, e del talo. Di solito le lesioni interessano solo un lato dell'epifisi; il lato mediale è coinvolto due volte più spesso rispetto a quello laterale. In genere la malattia viene diagnosticata nei bambini e, con una frequenza tre volte maggiore, nei ragazzi che nelle ragazze. I pazienti presentano dolore, limitazione del movimento e deformità o gonfiore dell'articolazione interessata."},"nl":{"name":"Dysplasia epiphysealis hemimelica","synonyms":["Ziekte van Trevor"],"definition":"Een zeldzame aandoening van botontwikkeling, gekarakteriseerd door gelokaliseerde, asymmetrische osteochondrale overontwikkeling die een of meerdere epifysen aantast, doorgaans van distale femur, proximale tibia, en talus. De laesies blijven doorgaans beperkt tot een zijde van de epifyse, waarbij de mediale zijde dubbel zo vaak aangetast wordt dan de laterale zijde. De aandoening wordt meestal gediagnosticeerd bij kinderen, en drie keer vaker bij jongens dan bij meisjes. Patiënten presenteren zich met pijn, beperking van bewegingsbereik, en deformiteit of zwelling van het aangetaste gewricht."},"pt":{"name":"Displasia epifisária hemimélica","synonyms":["Doença de Trevor"]},"pl":{"name":"Połowicza dysplazja nasadowa","synonyms":["Choroba Trevora"]},"cs":{"name":"Hemimelická epifyzární dysplázie","synonyms":["Trevorova nemoc"]},"uk":{"name":"Епіфізарна дисплазія гемімелічна","synonyms":["Хвороба Тревора"],"definition":"A rare bone development disorder characterized by localized, asymmetric osteochondral overgrowth affecting single or multiple epiphyses, most commonly the distal femur, proximal tibia, and talus. The lesions are typically restricted to one side of the epiphysis, with the medial side being affected twice as often as the lateral side. The condition is usually diagnosed in children, and three times more often in boys than in girls. Patients present with pain, limitation in range of motion, and deformity or swelling of the affected joint."},"zh":{"name":"半肢畸形骨骺发育异常","synonyms":["Trevor病"]},"tr":{"name":"Displazi epifiziyalis hemimelika","synonyms":["Trevor hastalığı"]}},"xrefs":[{"source":"OMIM","code":"127800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1995096940"},{"source":"MONDO","code":"0007489","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537997","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432282","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2019","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Worldwide","status":"Not yet validated","source":"13295331[PMID]_29252895[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","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:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100555","label":"Asymmetric growth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100777","label":"Exostoses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010582","label":"Irregular epiphyses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003367","label":"Abnormal femoral neck morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008812","label":"Flattened femoral head","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Occasional (29-5%)","criteria":null}]}}