{"orpha":563991,"name":"Osteochondrosis of the tarsal bone","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Aseptic necrosis of the tarsal bone","Avascular necrosis of the tarsal bone","Kohler disease"],"definition":"A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-563991/","orphanet_url":"https://www.orpha.net/en/disease/detail/563991","names":{"fr":{"name":"Ostéochondrose du tarse","synonyms":["Maladie de Kohler","Nécrose aseptique du tarse","Nécrose avasculaire du tarse","Ostéochondrite du tarse"],"definition":"Maladie osseuse rare caractérisée par une nécrose avasculaire de l'os naviculaire chez l'enfant. Une douleur soudaine et inexpliquée dans le pied, ne résistant plus au poids du corps, entraîne une claudication chez les patients. Les clichés radiographiques révèlent un aplatissement, une fragmentation et une sclérose de l'os naviculaire. La maladie peut être associée à un oedème des tissus mous, et est généralement unilatérale et spontanément résolutive. Les garçons sont plus souvent touchés que les filles."},"de":{"name":"Osteochondrose des Fußwurzelknochens","synonyms":["Aseptische Nekrose des Fußwurzelknochens","Avvaskuläre Nekrose des Fußwurzelknochens","Kohler-Krankheit"],"definition":"Eine seltene Knochenkrankheit, die durch avaskuläre Nekrose des Strahlbeines bei Kindern gekennzeichnet ist. Die Patienten präsentieren sich mit plötzlichen, unerklärlichen Fußschmerzen, Unfähigkeit, Gewicht zu tragen, und Hinken. Zu den radiologischen Merkmalen gehören Abflachung, Fragmentierung und fleckige Sklerose des Strahlbeines. Weichteilschwellungen können ebenfalls auftreten. Die Erkrankung ist in der Regel einseitig und selbstlimitierend. Jungen sind häufiger betroffen als Mädchen."},"es":{"name":"Osteocondrosis de hueso tarsiano","synonyms":["Enfermedad de Kohler","Necrosis aséptica de hueso tarsiano","Necrosis avascular de hueso tarsiano"],"definition":"Es una enfermedad ósea poco frecuente caracterizada por necrosis avascular del hueso navicular en niños. Los pacientes se presentan con dolor repentino e inexplicable de los pies, incapacidad para soportar peso y cojera. Las características radiográficas incluyen aplanamiento, fragmentación y áreas de esclerosis parcheada en el hueso navicular. Puede asociar edema de las partes blandas. La afección suele ser unilateral y autolimitada. Los niños se ven más afectados que las niñas."},"it":{"name":"Osteocondrosi del tarso","synonyms":["Malattia di Kohler","Necrosi asettica del tarso","Necrosi avascolare del tarso"],"definition":"Si tratta di una malattia scheletrica rara, caratterizzata dalla necrosi avascolare dell'osso navicolare nei bambini. I pazienti presentano un dolore improvviso e apparentemente inspiegabile al piede, che non riesce a sopportare il peso del corpo, e un'andatura claudicante. Le radiografie evidenziano l'appiattimento, la frammentazione e la sclerosi a chiazze dell'osso navicolare. Può associarsi al gonfiore dei tessuti molli. In genere la malattia è monolaterale e autolimitante. La malattia colpisce maggiormente i maschi."},"nl":{"name":"Osteochondrose van tarsaal bot","synonyms":["Aseptische necrose van tarsaal bot","Avasculaire necrose van tarsaal bot","Ziekte van Kohler"],"definition":"Een zeldzame botziekte, gekenmerkt door avasculaire necrose van os naviculare bij kinderen. Patiënten presenteren zich met plotse en onverklaarbare pijn aan de voet, onvermogen om te belasten, en mank lopen. Radiografische kenmerken zijn onder meer afvlakking, fragmentatie, en fragmentarische sclerose van os naviculare. Zwelling van weke delen kan geassocieerd zijn. De aandoening is meestal unilateraal en zelfbeperkend. Jongens worden vaker getroffen dan meisjes."},"pt":{"name":"Osteocondrose do osso tarso"},"pl":{"name":"Osteochondroza kości stępu","synonyms":["Choroba Kohlera"]},"cs":{"name":"Osteochondróza nártní kosti","synonyms":["Aseptic necrosis of the tarsal bone","Avascular necrosis of the tarsal bone","Kohler disease"]},"uk":{"name":"Остеохондроз передплеснової кістки","synonyms":["Асептичний некроз передплеснової кістки","Аваскулярний некроз передплеснової кістки","Хвороба Колера"],"definition":"A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls."},"zh":{"name":"跗骨软骨病","synonyms":["跗骨无菌性坏死"]},"tr":{"name":"Tarsal kemiğin osteokondrozu","synonyms":["Kohler hastalığı","Tarsal kemiğin aseptik nekrozu","Tarsal kemiğin avasküler nekrozu"]}},"xrefs":[{"source":"ICD-10","code":"M92.6","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"FB82.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"242668079"},{"source":"MONDO","code":"0016086","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16086","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0022765","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6842","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":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-11","source":"30838149[PMID]_30685015[PMID]_31083875[PMID]_30949007[PMID]","terms":[{"hpo":"HP:0008369","label":"Abnormal tarsal ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030840","label":"Ankle pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031955","label":"Antalgic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100662","label":"Chondritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008144","label":"Flattening of the talar dome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025238","label":"Foot pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031051","label":"Tarsal sclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008131","label":"Tarsal stippling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100323","label":"Juvenile aseptic necrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010886","label":"Osteochondritis Dissecans","frequency":"Occasional (29-5%)","criteria":null}]}}