{"orpha":97337,"name":"Sinding-Larsen-Johansson disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Aseptic necrosis of patella","Osteochondrosis of patella"],"definition":"A rare osteochrondrosis characterized by chronic traction injury of the immature osteotendinous junction where the patellar tendon inserts into the inferior pole of the patella. It is typically seen in active adolescents. Patients present with point tenderness at the inferior pole of the patella associated with focal swelling and restriction of knee joint range of movement. Radiographic features include thickening of the proximal patellar tendon (potentially followed by dystrophic calcification and/or ossification) and fragmentation of the inferior pole of the patella.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97337/","orphanet_url":"https://www.orpha.net/en/disease/detail/97337","names":{"fr":{"name":"Maladie de Sinding-Larsen-Johansson","synonyms":["Nécrose aseptique de la rotule","Ostéochondrose de la rotule"],"definition":"Ostéochrondrose rare caractérisée par une lésion chronique par traction de la jonction ostéotendineuse immature où le tendon rotulien s'insère dans le pôle inférieur de la rotule. La maladie s'observe typiquement chez les adolescents pratiquant un sport. Les patients présentent une sensibilité localisée au pôle inférieur de la rotule associée à une tuméfaction focale et à une amplitude restreinte du mouvement de l'articulation du genou. Les signes caractéristiques mis en évidence par radiographie sont un épaississement proximal du tendon rotulien (potentiellement suivi d'une calcification et/ou d'une ossification dystrophique) et une fragmentation de la partie inférieure de la rotule."},"de":{"name":"Sinding-Larsen-Johansson-Syndrom","synonyms":["Osteochondrosis der Patella","Patellanekrose, aseptische"],"definition":"Eine seltene Osteochrondrose, die durch eine chronische Zugverletzung des unreifen osteotendinösen Übergangs gekennzeichnet ist, an dem die Patellasehne am unteren Pol der Kniescheibe ansetzt. Sie tritt typischerweise bei aktiven Jugendlichen auf. Die Patienten zeigen eine punktförmige Schmerzempfindlichkeit am unteren Pol der Kniescheibe, die mit einer fokalen Schwellung und einer Einschränkung des Bewegungsumfangs des Kniegelenks einhergeht. Zu den radiologischen Merkmalen gehören eine Verdickung der proximalen Patellasehne (möglicherweise gefolgt von einer dystrophischen Verkalkung und/oder Verknöcherung) und eine Fragmentierung des unteren Pols der Patella."},"es":{"name":"Enfermedad de Sinding-Larsen-Johansson","synonyms":["Necrosis aséptica de la rótula","Necrosis aséptica de rótula","Osteocondrosis de la rótula","Osteocondrosis de rótula"],"definition":"Es una osteocondrosis poco frecuente caracterizada por una lesión crónica por tracción de la unión osteotendinosa inmadura en la inserción del tendón rotuliano en el polo inferior de la rótula. Suele ocurrir en adolescentes activos. Los pacientes presentan dolor puntual en el polo inferior de la rótula asociado con hinchazón focal y restricción del rango de movimiento de la articulación de la rodilla. Las características radiológicas incluyen engrosamiento del tendón rotuliano proximal (potencialmente seguido de calcificación y/u osificación distrófica) y fragmentación del polo inferior de la rótula."},"it":{"name":"Malattia di Sinding-Larsen-Johansson","synonyms":["Necrosi asettica della rotula","Osteocondrosi della rotula"]},"nl":{"name":"Ziekte van Sinding-Larsen-Johansson","synonyms":["Aseptische necrose van patella","Osteochondrose van patella"],"definition":"Een zeldzame osteochondrose, gekenmerkt door chronisch tractieletsel van de onrijpe osteotendineuze overgang waar de patellapees hecht aan de inferieure pool van de knieschijf. Het wordt doorgaans waargenomen bij actieve adolescenten. Patiënten vertonen gevoeligheid bij aanraken van een punt ter hoogte van de inferieure pool van de patella, geassocieerd met focale zwelling en beperking van het bewegingsbereik van het kniegewricht. Radiografische kenmerken zijn onder meer verdikking van de proximale patellapees (mogelijk gevolgd door dystrofische calcificatie en/of ossificatie) en fragmentatie van de inferieure pool van de patella."},"pt":{"name":"Doença Sinding-Larsen-Johansson","definition":"Osteocondrose rara caracterizada por lesão crónica por tração da junção osteotendinosa imatura onde o tendão patelar se insere no polo inferior da patela. É tipicamente vista em adolescentes ativos. Os doentes apresentam sensibilidade pontual no polo inferior da patela associada a inchaço focal e restrição da amplitude de movimento da articulação do joelho. As características radiográficas incluem espessamento do tendão patelar proximal (potencialmente seguido por calcificação distrófica e/ou ossificação) e fragmentação do polo inferior da patela."},"pl":{"name":"Choroba Sindinga, Larsena i Johanssona","synonyms":["Jałowa martwica rzepki","Osteochondroza rzepki"],"definition":"Rzadka osteochrondroza charakteryzująca się przewlekłym uszkodzeniem trakcyjnym niedojrzałego połączenia kostno-ścięgnistego, w miejscu przyczepu ścięgna rzepki do dolnego bieguna rzepki. Zwykle występuje u aktywnych fizycznie nastolatków. Pacjenci zgłaszają się z tkliwością punktową w okolicy dolnego bieguna rzepki, związaną z ogniskowym obrzękiem i ograniczeniem zakresu ruchu stawu kolanowego. Objawy radiologiczne obejmują pogrubienie bliższego ścięgna rzepki (potencjalnie z następczym zwapnieniem dystroficznym i/lub kostnieniem) oraz fragmentację dolnego bieguna rzepki."},"cs":{"name":"Sinding-Larsenova-Johanssonova nemoc","synonyms":["Aseptická nekróza apexu pately","Osteochondróza čéšky","Sinding-Larsen-Johanssonova nemoc"]},"uk":{"name":"Хвороба Сіндінга-Ларсена-Йоханссона","synonyms":["Асептичний некроз надколінка","Остеохондроз надколінка"],"definition":"A rare osteochrondrosis characterized by chronic traction injury of the immature osteotendinous junction where the patellar tendon inserts into the inferior pole of the patella. It is typically seen in active adolescents. Patients present with point tenderness at the inferior pole of the patella associated with focal swelling and restriction of knee joint range of movement. Radiographic features include thickening of the proximal patellar tendon (potentially followed by dystrophic calcification and/or ossification) and fragmentation of the inferior pole of the patella."},"zh":{"name":"Sinding-Larsen-Johansson病","synonyms":["髌骨无菌性坏死"],"definition":"Sinding-Larsen-Johansson病是一种影响髌骨肌腱附着于髌骨的骨软骨病，其特征是髌骨压痛和局部肿胀。"},"tr":{"name":"Sinding-Larsen-Johansson hastalığı","synonyms":["Patella osteokondrozu","Patellanın aseptik nekrozu"]}},"xrefs":[{"source":"ICD-10","code":"M92.4","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"FB82.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1733785551"},{"source":"MONDO","code":"0019970","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1504517","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10063585","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":399319,"name":"Osteochondrosis","classifications":[196,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","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":"2019-06-14","source":"721864[PMID]_26399331[PMID]_18936034[PMID]_23396316[PMID]","terms":[{"hpo":"HP:0030839","label":"Knee pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010501","label":"Limitation of knee mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040188","label":"Osteochondrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002661","label":"Painless fractures due to injury","frequency":"Occasional (29-5%)","criteria":null}]}}