{"orpha":2295,"name":"Familial articular hypermobility syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial joint instability syndrome","Familial joint laxity","Joint instability syndrome"],"definition":"A rare genetic disease characterized by generalized joint laxity leading to recurrent dislocation of major joints, such as the hip (often with congenital hip dislocation), shoulder, elbow, or patella. Patients often experience muscle and joint pain (sometimes with effusion) and may develop degenerative joint changes at a relatively early age. Skin abnormalities are absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2295/","orphanet_url":"https://www.orpha.net/en/disease/detail/2295","names":{"fr":{"name":"Syndrome d'hypermobilité articulaire familiale","synonyms":["Hyperlaxité articulaire familiale","Syndrome d'instabilité articulaire","Syndrome d'instabilité articulaire familiale"],"definition":"Maladie génétique rare caractérisée par une hyperlaxité généralisée des articulations, entraînant des luxations répétées des grosses articulations, telles que la hanche (souvent accompagnées d'une luxation congénitale de la hanche), l'épaule, le coude ou la rotule. Les patients présentent souvent des douleurs musculaires et articulaires (parfois avec un épanchement) et peuvent développer des lésions articulaires dégénératives à un âge relativement jeune. Aucun trouble cutané n'est observé."},"de":{"name":"Gelenkhypermobilitäts-Syndrom, familiäres","synonyms":["Gelenkinstabilitäts-Syndrom, familiäres","Gelenklaxität, familiäre"],"definition":"Eine seltene genetisch bedingte Krankheit, die durch eine generalisierte Gelenkhypermobilität gekennzeichnet ist, die zu wiederkehrenden Gelenkdislokationen wichtiger Gelenke führt, z. B. der Hüfte (oft mit angeborener Hüftluxation), der Schulter, des Ellbogens oder der Kniescheibe. Die Patienten leiden häufig unter Muskel- und Gelenkschmerzen (manchmal mit Erguss) und können schon in relativ jungem Alter degenerative Gelenkveränderungen entwickeln. Hautanomalien sind nicht vorhanden."},"es":{"name":"Síndrome de hipermovilidad articular familiar","synonyms":["Laxitud articular familiar","Síndrome de inestabilidad articular","Síndrome de inestabilidad articular familiar"],"definition":"Es una enfermedad genética poco frecuente caracterizada por laxitud articular generalizada, que resulta en luxaciones recurrentes de las principales articulaciones, como la cadera (a menudo con luxación congénita de cadera), el hombro, el codo o la rótula. Con frecuencia, los pacientes experimentan dolores musculares y articulares (en ocasiones con derrame), pudiendo desarrollar cambios articulares degenerativos a una edad relativamente temprana. No asocia anomalías cutáneas."},"it":{"name":"Sindrome familiare da ipermobilità articolare","synonyms":["EDS 11","Lassità articolare familiare","Sindrome da instabilità articolare","Sindrome familiare da instabilità articolare"],"definition":"Si tratta di una malattia genetica rara, caratterizzata da lassità articolare generalizzata, che si associa a dislocazioni ricorrenti delle principali articolazioni, ad esempio dell'anca (spesso congenita), della spalla, del gomito e della rotula. Spesso i pazienti accusano dolori muscolari e articolari (talvolta con versamento) e possono sviluppare alterazioni degenerative delle articolazioni in età relativamente precoce. Non si osservano anomalie della cute."},"nl":{"name":"Familiaal gewrichtshypermobiliteitssyndroom","synonyms":["Familiaal gewrichtsinstabiliteitssyndroom","Familiale gewrichtslaxiteit","Gewrichtsinstabiliteitssyndroom"],"definition":"Een zeldzame, genetische aandoening, gekenmerkt door gegeneraliseerde gewrichtslaxiteit die leidt tot recidiverende luxatie van grote gewrichten, zoals heup (vaak met congenitale luxatie van heup), schouder, elleboog, of knieschijf. Patiënten ervaren vaak spier- en gewrichtspijn (soms met effusie) en ontwikkelen mogelijk degeneratieve veranderingen van gewrichten op relatief jonge leeftijd. Huidafwijkingen zijn afwezig."},"pt":{"name":"Síndrome de hipermobilidade articular familiar","synonyms":["EDS XI","Hipermobilidade articular familiar","Síndrome Ehlers-Danlos tipo 11","Síndrome de instabilidade articular familiar"]},"pl":{"name":"Zespół Ehlersa i Danlosa typu 11","synonyms":["EDS XI","Rodzinna luźność stawów","Zespół niestabilności stawów","Zespół rodzinnej niestabilności stawów"]},"cs":{"name":"Ehlersův-Danlosův syndrom, typ 11","synonyms":["EDS XI","Syndrom familiární nestability kloubů","Familiární laxita kloubů","Syndrom nestability kloubů","Ehlers-Danlosův syndrom, typ 11"]},"uk":{"name":"Сімейний синдром гіпермобільності суглобів","synonyms":["Сімейний синдром нестабільності суглобів","Сімейна розхитаність суглобів","Синдром нестабільності суглобів"],"definition":"A rare genetic disease characterized by generalized joint laxity leading to recurrent dislocation of major joints, such as the hip (often with congenital hip dislocation), shoulder, elbow, or patella. Patients often experience muscle and joint pain (sometimes with effusion) and may develop degenerative joint changes at a relatively early age. Skin abnormalities are absent."},"zh":{"name":"家族遗传性关节运动过度综合征","synonyms":["家族性关节不稳定综合征"]},"tr":{"name":"ailesel artiküler hipermobilite sendromu","synonyms":["Ailesel eklem gevşekliği","Eklem instabilitesi sendromu","Ailesel eklem instabilitesi sendromu"]}},"xrefs":[{"source":"OMIM","code":"147900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1609305399"},{"source":"MONDO","code":"0007842","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535884","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268349","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3054","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":228215,"name":"Genetic dermis elastic tissue disorder","classifications":[156,187]},{"orpha":139030,"name":"Rare developmental defect with connective tissue involvement","classifications":[147,156]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]},{"orpha":271870,"name":"Rare genetic systemic or rheumatologic disease","classifications":[156]},{"orpha":182222,"name":"Rare systemic disease","classifications":[196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood","Infancy"],"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002999","label":"Patellar dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003834","label":"Shoulder dislocation","frequency":"Occasional (29-5%)","criteria":null}]}}