{"orpha":2768,"name":"Blount disease","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Infantile tibia vara","Osteochondrosis deformans tibiae","Tibia vara Blount"],"definition":"A rare primary bone dysplasia characterized by disordered endochondral ossification of the medial part of the proximal tibial physis leading to multiplanar deformities of the lower limb. Patients present with bow-legged deformity with bone angulation just below the knee which is mostly bilateral. Severe deformity may result in early degenerative arthritis of the knee. It may occur as an isolated condition or as a part of a syndrome. It mostly occurs in infancy, however adolescence-onset patients have also been reported. Risk factors may include obesity and early walking.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2768/","orphanet_url":"https://www.orpha.net/en/disease/detail/2768","names":{"fr":{"name":"Maladie de Blount","synonyms":["Ostéochondrose déformante du tibia","Tibia vara Blount","Tibia vara infantile"],"definition":"Dysplasie osseuse primaire rare caractérisée par une ossification endochondrale anormale de la partie médiale de la physe tibiale proximale, entraînant des déformations multi étagées des membres inférieurs. Les patients présentent une déformation de type jambes arquées avec une angulation osseuse juste en dessous du genou, généralement bilatérale. Une déformation sévère peut entraîner une arthrose précoce du genou. Elle peut se présenter sous forme isolée ou faire partie d'un syndrome. Elle survient principalement pendant la petite enfance, mais des cas d'apparition à l'adolescence ont également été rapportés. Les facteurs de risque peuvent inclure l'obésité et un âge précoce de la marche."},"de":{"name":"Blount-Syndrom","synonyms":["Blount-Barber-Syndrom","Blount-Krankheit","Osteochondrosis deformans tibiae"],"definition":"Die Blount-Krankheit ist charakterisiert durch gestörtes Wachstum des inneren oberen Anteils der Tibia, wodurch es zunehmend zu einer bogenförmigen Deformierung mit einem Knick direkt unterhalb des Knies kommt (Tibia vara). In 60% der Fälle sind beide Beine betroffen."},"es":{"name":"Enfermedad de Blount","synonyms":["Osteocondrosis deformante de tibia","Tibia vara de Blount","Tibia vara infantil"],"definition":"Es una displasia ósea primaria poco frecuente caracterizada por una osificación endocondral desordenada de la parte medial de la fisis tibial proximal, que produce deformidades multiplanares en la extremidad inferior. Los pacientes presentan una deformidad en varo con angulación ósea justo debajo de la rodilla, generalmente bilateral. Las deformidades graves pueden provocar artrosis degenerativa precoz de la rodilla. El trastorno puede presentarse como una afección aislada o como parte de un síndrome. Suele manifestarse en el periodo de lactante, aunque también se han descrito casos en la adolescencia. Entre los factores de riesgo se incluyen la obesidad y el inicio precoz de la deambulación."},"it":{"name":"Malattia di Blount","synonyms":["Osteocondrosi deformante della tibia","Tibia vara di Blount","Tibia vara infantile"]},"nl":{"name":"Ziekte van Blount","synonyms":["Infantiele tibia vara","Osteochondrosis deformans tibiae","Tibia vara - Blount"],"definition":"Een zeldzame primaire botdysplasie, gekenmerkt door verstoorde endochondrale ossificatie van het middelste deel van de proximale groeischijf van het scheenbeen, wat leidt tot multiplanaire misvormingen van onderste ledemaat. Patiënten vertonen O-benen waarbij de standsafwijking van het bot zich net onder de knie bevindt, en die meestal bilateraal optreedt. Ernstige deformiteit kan resulteren in vroege degeneratieve artritis van de knie. Het kan optreden als een geïsoleerde aandoening of als onderdeel van een syndroom. De aandoening treedt vooral op in de zuigelingentijd, maar er werden ook patiënten gerapporteerd met aanvang in de adolescentie. Mogelijke risicofactoren zijn obesitas en op vroege leeftijd kunnen lopen."},"pt":{"name":"Doença de Blount","synonyms":["Osteocondrose deformante da tíbia"]},"pl":{"name":"Choroba Blounta","synonyms":["Piszczel szpotawa Blounta","Piszczel szpotawa typ dziecięcy"]},"cs":{"name":"Blountova nemoc","synonyms":["Osteochondrosis deformans tibiae","Blountova tibia vara","Dětská tibia vara"]},"uk":{"name":"Хвороба Блаунта","synonyms":["Інфантильна варіація великогомілкової кістки","Остеохондроз деформуючих кісток гомілки","Tibia vara Blount"],"definition":"Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs."},"zh":{"name":"Blount病","synonyms":["胫骨变形性骨软骨病"]},"tr":{"name":"Blount hastalığı","synonyms":["Tibia vara Blount","İnfantil tibia vara","Osteokondrozis deformans tibiya"]}},"xrefs":[{"source":"OMIM","code":"188700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"259200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M92.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB82.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"138830223"},{"source":"MONDO","code":"0017194","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536237","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220757","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"916","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072255","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93439,"name":"Campomelic dysplasia and related disorders","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Not yet documented","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"25435033[PMID]_2281773[PMID]_13475409[PMID]","terms":[{"hpo":"HP:0002982","label":"Tibial bowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010591","label":"Abnormality of the proximal tibial epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006491","label":"Abnormality of the tibial metaphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040188","label":"Osteochondrosis","frequency":"Frequent (79-30%)","criteria":null}]}}