{"orpha":566943,"name":"Mueller-Weiss syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Brailsford disease","Mueller-Weiss osteonecrosis of the tarsal bone"],"definition":"A rare bone disease characterized by spontaneous adult-onset tarsal navicular osteonecrosis. Patients present with chronic mid- and hindfoot pain, swelling and tenderness over the dorsomedial aspect of the midfoot, flattening of the medial longitudinal arch, and pes planovarus. Radiographic findings include comma-shaped deformity due to collapse of the lateral part of the navicular bone and medial or dorsal protrusion of a portion or the entire bone. The condition may be bilateral or asymmetric and associated with pathological fractures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-566943/","orphanet_url":"https://www.orpha.net/en/disease/detail/566943","names":{"fr":{"name":"Syndrome de Mueller-Weiss","synonyms":["Maladie de Brailsford","Ostéonécrose du tarse de Mueller-Weiss"],"definition":"Maladie osseuse rare caractérisée par une ostéonécrose spontanée du naviculaire tarsien chez l'adulte. Les patients présentent une douleur chronique au niveau du médio-pied et de l'arrière-pied, un gonflement et une sensibilité sur la face dorso-médiale du médio-pied, un aplatissement de l'arc longitudinal médial et un pied plat creux (pes planovarus). Les examens radiographiques montrent une déformation en forme de virgule due à l'effondrement de la partie latérale de l'os naviculaire et une saillie médiale ou dorsale d'une partie ou de la totalité de l'os. L'affection peut être bilatérale ou asymétrique et associée à des fractures pathologiques."},"de":{"name":"Mueller-Weiss-Syndrom","synonyms":["Brailsford-Krankheit","Mueller-Weiss Osteonekrose des Fußwurzelknochens"],"definition":"Eine seltene Knochenkrankheit, die durch eine spontan auftretende Osteonekrose des tarsalen Strahlbeines bei Erwachsenen gekennzeichnet ist. Die Patienten präsentieren sich mit chronischen Schmerzen im Mittel- und Rückfuß, Schwellungen und Empfindlichkeit im dorsomedialen Bereich des Mittelfußes, Abflachung des medialen Längsgewölbes und Pes planovarus. Zu den radiologischen Befunden gehören eine kommaförmige Fehlbildung aufgrund eines Zusammenbruchs des lateralen Teils des Strahlbeines und eine mediale oder dorsale Vorwölbung eines Teils oder des gesamten Knochens. Der Zustand kann bilateral oder asymmetrisch sein und mit pathologischen Frakturen einhergehen."},"es":{"name":"Síndrome de Mueller-Weiss","synonyms":["Osteonecrosis de hueso tarsiano de Mueller-Weiss","Síndrome de Brailsford"],"definition":"Es una enfermedad ósea poco frecuente caracterizada por osteonecrosis espontánea del navicular tarsal de inicio en el adulto. Los pacientes se presentan con dolor crónico en la parte media y trasera del pie, inflamación y dolor a la palpación en la cara dorsomedial de la parte medial del pie, aplanamiento del arco longitudinal medial y pie plano varo. Los hallazgos radiológicos incluyen deformidad en forma de coma debida al colapso de la parte lateral del hueso navicular y protrusión medial o dorsal de una porción o de todo el hueso. El trastorno puede ser bilateral o asimétrico y estar asociado a otras fracturas patológicas."},"it":{"name":"Sindrome di Mueller-Weiss","synonyms":["Malattia di Brailsford","Osteonecrosi di Mueller-Weiss del tarso"],"definition":"Si tratta di una malattia scheletrica rara, caratterizzata da osteonecrosi spontanea dell'osso navicolare del tarso ad esordio nell'età adulta. I pazienti presentano dolore cronico del mesopiede e del retropiede, gonfiore e ipersensibilità della porzione dorso-mediale del mesopiede, appiattimento dell'arco longitudinale mediale e piede piatto/varo. Le radiografie mostrano una deformità a forma di virgola causata dal collasso della porzione laterale dell'osso navicolare, e la protrusione mediale o dorsale di tutto l'osso o di una sua parte. La malattia può essere bilaterale o asimmetrica, e associarsi a fratture patologiche."},"nl":{"name":"Syndroom van Mueller-Weiss","synonyms":["Mueller-Weiss-osteonecrose van tarsaal bot","Ziekte van Brailsford"],"definition":"Een zeldzame botaandoening, gekarakteriseerd door spontane osteonecrose van os naviculare met aanvang in de volwassenheid. Patiënten presenteren zich met chronische pijn aan midden- en achtervoet, zwelling en drukgevoeligheid van dorsomediaal aspect van middenvoet, afvlakking van mediaal longitudinaal voetgewelf, en pes planovarus. Radiografische bevindingen zijn onder meer kommavormige misvorming als gevolg van collaps van het laterale deel van os naviculare en mediale of dorsale protrusie van een deel van het gehele bot. De aandoening kan bilateraal of asymmetrisch zijn, en geassocieerd met pathologische fracturen."},"pt":{"name":"Síndrome Mueller-Weiss"},"pl":{"name":"Zespół Muellera i Weissa","synonyms":["Choroba Brailsforda"]},"cs":{"name":"Mueller-Weiss syndrom","synonyms":["Brailsford disease","Mueller-Weiss osteonecrosis of the tarsal bone"]},"uk":{"name":"Синдром Мюллера-Вейсса","synonyms":["Хвороба Брейлсфорда","Остеонекроз Мюллера-Вайса передплеснової кістки"],"definition":"A rare bone disease characterized by spontaneous adult-onset tarsal navicular osteonecrosis. Patients present with chronic mid- and hindfoot pain, swelling and tenderness over the dorsomedial aspect of the midfoot, flattening of the medial longitudinal arch, and pes planovarus. Radiographic findings include comma-shaped deformity due to collapse of the lateral part of the navicular bone and medial or dorsal protrusion of a portion or the entire bone. The condition may be bilateral or asymmetric and associated with pathological fractures."},"zh":{"name":"Muller-Weiss病（足舟骨坏死）","synonyms":["足舟骨Muller-Weiss坏死"]},"tr":{"name":"Mueller-Weiss sendromu","synonyms":["Brailsford hastalığı","Tarsal kemiğin Mueller-Weiss osteonekrozu"]}},"xrefs":[{"source":"ICD-10","code":"M92.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB81.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0035452","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4761149","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10082326","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":399158,"name":"Osteonecrosis","classifications":[196,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":277.0,"area":"Worldwide","status":"Validated","source":"27145453[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-16","source":"30838149[PMID]_27145453[PMID]","terms":[{"hpo":"HP:0025238","label":"Foot pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100339","label":"Abnormality of the os naviculare pedis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100662","label":"Chondritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012098","label":"Edema of the dorsum of feet","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030871","label":"Facet joint arthrosis","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:0010505","label":"Limitation of movement at ankles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005656","label":"Positional foot deformity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100925","label":"Sclerosis of foot bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008110","label":"Equinovarus deformity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005063","label":"Fragmented, irregular epiphyses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032153","label":"Joint subluxation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005086","label":"Knee osteoarthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008124","label":"Talipes calcaneovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100694","label":"Tibial torsion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100535","label":"Tibiofibular diastasis","frequency":"Occasional (29-5%)","criteria":null}]}}