{"orpha":564003,"name":"Osteochondrosis of the metatarsal bone","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Avascular necrosis of the metatarsal bone","Freiberg disease","Freiberg infraction"],"definition":"A rare bone disease characterized by avascular necrosis of a metatarsal head, most commonly involving the second, but also the third or fourth, metatarsal. Patients may present with pain on weight-bearing, swelling, and tenderness. Radiological features include widening of the metatarsophalangeal joint space and flattening of the affected metatarsal head, at later stages metatarsal head sclerosis, cortical thickening, and intra-articular loose bodies. The condition can be bilateral in some cases and shows a significant predilection for females in the second or third decade of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-564003/","orphanet_url":"https://www.orpha.net/en/disease/detail/564003","names":{"fr":{"name":"Ostéochondrose du métatarse","synonyms":["Nécrose avasculaire du métatarse","Ostéochondrite du métatarse","Maladie de Freiberg"],"definition":"Maladie osseuse rare caractérisée par la nécrose avasculaire d'une tête métatarsienne, touchant le plus souvent le deuxième, mais aussi le troisième ou le quatrième métatarsien. Les patients peuvent ressentir une douleur en soulevant un poids, présenter un oedème et une sensibilité. Les résultats radiologiques comprennent l'élargissement de l'espace articulaire métatarsophalangien et l'aplatissement de la tête métatarsienne affectée, à des stades plus avancés, la sclérose de la tête métatarsienne, l'épaississement cortical et les corps étrangers intra-articulaires. La maladie peut être bilatérale dans certains cas et présente une prédilection significative pour les femmes dans la deuxième ou troisième décennie de vie."},"de":{"name":"Osteochondrose des Mittelfußknochens","synonyms":["Avaskuläre Nekrose der Metatarsalköpfchen","Freiberg-Krankheit","Osteochondronekrose der Metatarsalköpfchen"],"definition":"Eine seltene Knochenkrankheit, die durch eine avaskuläre Nekrose eines Mittelfußkopfes gekennzeichnet ist und meist den zweiten, aber auch den dritten oder vierten Mittelfußknochen betrifft. Die Patienten können sich mit Schmerzen bei Belastung, Schwellungen und Druckempfindlichkeit vorstellen. Zu den radiologischen Merkmalen gehören eine Erweiterung des Zehengrundgelenks und eine Abflachung des betroffenen Mittelfußköpfchens, in späteren Stadien eine Sklerose des Mittelfußköpfchens, eine Verdickung der Kortikalis und intraartikuläre lose Körper. Die Erkrankung kann in einigen Fällen beidseitig auftreten und zeigt eine signifikante Prädilektion für Frauen im zweiten oder dritten Lebensjahrzehnt."},"es":{"name":"Osteocondrosis de hueso metatarsiano","synonyms":["Enfermedad de Freiberg","Infracción de Freiberg","Necrosis avascular de hueso metatarsiano"],"definition":"Es una enfermedad ósea poco frecuente caracterizada por necrosis avascular de la cabeza del metatarsiano, afectando con mayor frecuencia al segundo metatarsiano, aunque también al tercero o al cuarto metatarsiano. Los pacientes pueden presentarse con dolor al soportar peso, inflamación y dolor a la palpación. Las características radiológicas incluyen ensanchamiento del espacio de la articulación metatarsofalángica y aplanamiento de la cabeza metatarsiana afectada, en etapas posteriores esclerosis de la cabeza del metatarso, engrosamiento cortical y cuerpos libres intra-articulares. El trastorno puede ser bilateral en algunos casos, mostrando una predilección significativa por las mujeres en la segunda o tercera década de la vida."},"it":{"name":"Osteocondrosi del metatarso","synonyms":["Infrazione di Freiberg","Malattia di Freiberg","Necrosi avascolare del metatarso"],"definition":"Si tratta di una malattia scheletrica rara, caratterizzata dalla necrosi avascolare della testa del metatarso, che di solito interessa il secondo, il terzo o il quarto metatarso. I pazienti presentano dolore nelle zone sottoposte al carico, gonfiore e ipersensibilità. Le radiografie evidenziano un allargamento dello spazio articolare metatarso-falangeo e un appiattimento della testa metatarsale interessata; negli stadi successivi si evidenzia sclerosi della testa metatarsale, ispessimento corticale e mobilità dei corpi intrarticolari. La malattia può essere bilaterale, e mostra una significativa predilezione per le femmine nella seconda o terza decade di vita."},"nl":{"name":"Osteochondrose van metatarsaal bot","synonyms":["Avasculaire necrose van metatarsaal bot","Infarct van Freiberg","Ziekte van Freiberg"],"definition":"Een zeldzame aandoening van bot, gekarakteriseerd door avasculaire necrose van een caput van metatarsus (kop van middenvoetsbeen), meestal met betrokkenheid van het tweede, maar ook derde of vierde, middenvoetsbeen. Patiënten presenteren zich mogelijk met pijn bij belasting, zwelling, en drukgevoeligheid. Radiologische kenmerken zijn onder meer verbreding van metatarsofalangeale gewrichtsruimte en afvlakking van de aangetaste metatarsaalkop, en in latere stadia sclerose van metatarsaalkop, corticale verdikking, en intra-articulair corpus liberum. De aandoening kan in sommige gevallen bilateraal zijn en komt significant meer voor bij vrouwen in hun tweede of derde levensdecennium."},"pt":{"name":"Osteocondrose do osso metatarso"},"pl":{"name":"Osteochondroza kości śródstopia","synonyms":["Choroba Freiberga"]},"cs":{"name":"Osteochondróza zánártní kosti","synonyms":["Avascular necrosis of the metatarsal bone","Freiberg disease","Freiberg infraction"]},"uk":{"name":"Остеохондроз плеснової кістки","synonyms":["Аваскулярний некроз плеснової кістки","Хвороба Фрейберга","Порушення Фрайберга"],"definition":"A rare bone disease characterized by avascular necrosis of a metatarsal head, most commonly involving the second, but also the third or fourth, metatarsal. Patients may present with pain on weight-bearing, swelling, and tenderness. Radiological features include widening of the metatarsophalangeal joint space and flattening of the affected metatarsal head, at later stages metatarsal head sclerosis, cortical thickening, and intra-articular loose bodies. The condition can be bilateral in some cases and shows a significant predilection for females in the second or third decade of life."},"zh":{"name":"跖骨软骨病","synonyms":["跖骨无菌性坏死"]},"tr":{"name":"Metatarsal kemiğin osteokondrozu","synonyms":["Freiberg hastalığı","Freiberg ihlali","Metatarsal kemiğin avasküler nekrozu"]}},"xrefs":[{"source":"ICD-10","code":"M92.7","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"FB82.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"74359553"},{"source":"MONDO","code":"0023188","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535636","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0264099","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2380","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","Adult"],"prevalence":[{"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":"2021-06-11","source":"32653393[PMID]_30685014[PMID]_32917526[PMID]","terms":[{"hpo":"HP:0010630","label":"Abnormality of metatarsal epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040034","label":"Abnormality of the second metatarsal bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100662","label":"Chondritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005194","label":"Flattened metatarsal heads","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025238","label":"Foot pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040188","label":"Osteochondrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005187","label":"Progressive joint destruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100925","label":"Sclerosis of foot bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010219","label":"Structural foot deformity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100039","label":"Thickened cortex of bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010672","label":"Abnormality of the third metatarsal bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008089","label":"Abnormality of the fifth metatarsal bone","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040035","label":"Abnormality of the fourth metatarsal bone","frequency":"Very rare (<4-1%)","criteria":null}]}}