{"orpha":295018,"name":"Congenital pseudoarthrosis of the tibia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Congenital pseudarthrosis of the tibia"],"definition":"A rare bone development disorder characterized by mostly anterolateral bowing of the tibia usually evident at birth, with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. In the vast majority of patients the defect is unilateral, and more than half of the cases are associated with neurofibromatosis type 1.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-295018/","orphanet_url":"https://www.orpha.net/en/disease/detail/295018","names":{"fr":{"name":"Pseudoarthrose congénitale du tibia","synonyms":["Pseudarthrose congénitale du tibia"],"definition":"Anomalie rare du développement osseux caractérisée par une courbure (principalement antérolatérale) du tibia, généralement visible à la naissance avec fractures ultérieures sans consolidation et formation d'une fausse articulation (pseudoarthrose), accompagnée d'une instabilité et d'une angulation à l'endroit de la pseudoarthrose. L'anomalie est unilatérale chez la grande majorité des patients, et plus de la moitié des cas sont associés à une neurofibromatose type 1."},"de":{"name":"Pseudarthrose der Tibia, kongenitale","definition":"Eine seltene Störung der Knochenentwicklung, die durch eine meist anterolaterale Verkrümmung des Schienbeins gekennzeichnet ist, die in der Regel schon bei der Geburt auftritt, mit anschließenden nicht heilenden Brüchen und der Bildung eines falschen Gelenks (Pseudoarthrose) sowie Instabilität und Abwinkelung an der Pseudoarthrosestelle. Bei der überwiegenden Mehrheit der Patienten ist der Defekt einseitig, und in mehr als der Hälfte der Fälle besteht ein Zusammenhang mit Neurofibromatose Typ 1."},"es":{"name":"Pseudoartrosis congénita de la tibia","definition":"Es un trastorno poco frecuente del desarrollo óseo caracterizado por una incurvación principalmente anterolateral de la tibia que suele ser evidente al nacimiento, con posteriores fracturas que no consolidan y la formación de una falsa articulación (pseudoartrosis), así como inestabilidad y angulación en la zona de pseudoartrosis. En la gran mayoría de pacientes el defecto es unilateral, y más de la mitad de los casos está asociado a neurofibromatosis tipo 1."},"it":{"name":"Pseudoartrosi congenita della tibia","definition":"Si tratta di una malattia rara dello sviluppo delle ossa, caratterizzata dall'incurvamento per lo più anterolaterale della tibia, di solito congenito, con conseguenti fratture che non guariscono e la formazione di una falsa articolazione (pseudoartrosi), associata all'instabilità e all'angolazione del sito della pseudoartrosi. Nella maggior parte dei pazienti il difetto è monolaterale, e in oltre la metà dei casi si associa alla neurofibromatosi tipo 1."},"nl":{"name":"Congenitale pseudoartrose van tibia","synonyms":["Congenitale pseudartrose van tibia","Congenitale pseudoartrose van scheenbeen"],"definition":"Een zeldzame aandoening van botontwikkeling, gekarakteriseerd door overwegend anterolaterale verkromming van scheenbeen, doorgaans merkbaar bij de geboorte, met daaropvolgend niet-helende fracturen en vorming van een vals gewricht (pseudoartrose), en instabiliteit en angulatie ter hoogte van de pseudoartrose. Bij de overgrote meerderheid van de patiënten is het defect unilateraal, en meer dan de helft van de gevallen is geassocieerd met neurofibromatose type 1."},"pt":{"name":"Pseudoartrose congénita da tíbia"},"pl":{"name":"Wrodzony staw rzekomy piszczeli","synonyms":["Congenital pseudarthrosis of the tibia"]},"cs":{"name":"Vrozená pseudoartróza tibie","synonyms":["Congenital pseudarthrosis of the tibia"]},"uk":{"name":"Вроджений псевдоартроз великогомілкової кістки","synonyms":["Вроджений псевдоартроз великогомілкової кістки"],"definition":"A rare bone development disorder characterized by mostly anterolateral bowing of the tibia usually evident at birth, with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. In the vast majority of patients the defect is unilateral, and more than half of the cases are associated with neurofibromatosis type 1."},"zh":{"name":"先天性胫骨假关节","synonyms":["先天性胫骨假关节"],"definition":"一种罕见的骨发育障碍，其特征是出生时明显的胫骨前外侧弯曲，随后出现骨折不愈和假关节形成（假关节病），假关节不稳定且成角。缺损在大多患者中为单侧性，一半以上与神经纤维瘤病1型有关。"},"tr":{"name":"Doğumsal tibia psödoartrozu","synonyms":["Tibianın doğumsal psödoartrozu"]}},"xrefs":[{"source":"ICD-10","code":"Q74.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB9Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017462","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265661","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":157808,"name":"Isolated pseudoarthrosis of the limbs","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}