{"orpha":2619,"name":"Brachydactylous dwarfism, Mseleni type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Mseleni joint disease"],"definition":"A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern KwaZulu-Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly have been reported in a few patients with MJD.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2619/","orphanet_url":"https://www.orpha.net/en/disease/detail/2619","names":{"fr":{"name":"Syndrome de nanisme-brachydactylie type Mseleni","synonyms":["Maladie articulaire type Mseleni"],"definition":"Chondrodysplasie rare et invalidante, décrite principalement dans la région du Maputaland, dans le nord du KwaZulu-Natal, en Afrique du Sud, caractérisée par une arthropathie bilatérale affectant uniformément les articulations, l'atteinte principale et la plus sévère étant celle des articulations de la hanche, mais de nombreuses autres articulations peuvent également être touchées (genoux, chevilles, poignets, épaules, coudes). Elle se manifeste par une douleur et une raideur limitant progressivement l'amplitude des mouvements des articulations, et venant par la suite entraver la capacité du patient à marcher. Des cas de petite taille et de brachydactylie ont été rapportés chez quelques patients."},"de":{"name":"Kleinwuchs mit Brachydaktylie vom Typ Mseleni","synonyms":["Mselenische Gelenkkrankheit"],"definition":"Eine seltene und schwere Chondrodysplasie, die hauptsächlich in der Maputaland-Region im Norden von KwaZulu-Natal, Südafrika, vorkommt und durch eine beidseitige und gleichmäßige Arthropathie der Gelenke gekennzeichnet ist, die vor allem und am stärksten die Hüfte betrifft, aber auch viele andere Gelenke (z. B. Knie, Knöchel, Handgelenke, Schultern, Ellbogen) befallen kann. Die Krankheit äußert sich durch Schmerzen und Steifheit, die die Beweglichkeit der Gelenke zunehmend einschränken und schließlich die Gehfähigkeit des Patienten beeinträchtigen. Bei einigen wenigen Patienten mit MJD wurden schwerer Kleinwuchs und Brachydaktylie beobachtet."},"es":{"name":"Talla baja significativa con braquidactilia tipo Mseleni","synonyms":["Enanismo con braquidactilia tipo Mseleni","Enfermedad articular de Mseleni"],"definition":"Es una condrodisplasia poco frecuente e incapacitante, que se presenta principalmente en la región de Maputaland, en el norte de Kwazulu Natal, Sudáfrica. Está caracterizada por artropatía bilateral y uniforme de las articulaciones que afecta principalmente a la cadera y, con menor frecuencia, a otras articulaciones (rodillas, tobillos, muñecas, hombros, codos), manifestándose con dolor y rigidez articular que limitan progresivamente el movimiento y comprometen eventualmente la capacidad de deambulación. En algunos pacientes se ha descrito talla baja extrema y braquidactilia."},"it":{"name":"Nanismo - brachidattilia, tipo Mseleni","synonyms":["Malattia articolare di Mseleni"],"definition":"La malattia articolare di Mseleni (MJD) è una condrodisplasia rara e invalidante, presente soprattutto nella regione del Maputaland nello Kwazulu Natal settentrionale, in Sudafrica. È caratterizzata da artropatia bilaterale e uniforme delle articolazioni che interessa soprattutto e in modo più grave l'anca, ma può colpire anche altre articolazioni (ginocchia, caviglie, polsi, spalle e gomiti). Esordisce con dolore e rigidità che limitano progressivamente i movimenti articolari, compromettendo la capacità di deambulare. In alcuni pazienti sono state descritte bassa statura e brachidattilia."},"nl":{"name":"Brachydactyleuze dwerggroei, Mseleni-type","synonyms":["Gewrichtsziekte van Mseleni"],"definition":"Een zeldzame en verlammende chondrodysplasie, voornamelijk gerapporteerd in de regio van Maputaland in de Noordelijke provincie KwaZoeloe-Natal in Zuid-Afrika, en gekarakteriseerd door bilaterale en uniforme artropathie van de gewrichten die voornamelijk en het ergst de heup treft maar ook vele andere gewrichten kan treffen (i.e. knieën, enkels, polsen, schouders, ellebogen) en die zich manifesteert met pijn en stijfheid die progressief de beweging van gewrichten beperkt, wat uiteindelijk het vermogen van de patiënt om te stappen zal aantasten. Bij enkele patiënten met MJD werden ernstige kleine gestalte en brachydactylie gerapporteerd."},"pt":{"name":"Nanismo com braquidactilia, tipo Mseleni","synonyms":["Doença articular de Mseleni"]},"pl":{"name":"Karłowatość z krótkimi palcami typu Mseleni","synonyms":["Choroba stawów Mseleni"]},"cs":{"name":"Brachydaktylický nanismus, typ Mseleni","synonyms":["Nemoc Mseleni"]},"uk":{"name":"Брахідактилічна карликовість, тип Мселені","synonyms":["Хвороба суглобів Мселені"],"definition":"A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD."},"zh":{"name":"短肢侏儒症，Mseleni型","synonyms":["Mseleni 关节病"]},"tr":{"name":"Brakidaktili cücelik, Mseleni tipi","synonyms":["Mseleni eklem hastalığı"]}},"xrefs":[{"source":"OMIM","code":"613342","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"419953164"},{"source":"MONDO","code":"0013232","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537086","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931420","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"960","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-07-02","source":"20471895[PMID]_8362904[PMID]","terms":[{"hpo":"HP:0003028","label":"Abnormality of the ankles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003368","label":"Abnormality of the femoral head","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005872","label":"Brachytelomesophalangy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008843","label":"Hip osteoarthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005086","label":"Knee osteoarthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002654","label":"Multiple epiphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032153","label":"Joint subluxation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003940","label":"Osteoarthritis of the elbow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009742","label":"Stiff shoulders","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003179","label":"Protrusio acetabuli","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0012649","label":"Increased inflammatory response","frequency":"Excluded (0%)","criteria":null}]}}