{"orpha":98249,"name":"Ehlers-Danlos syndrome","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["EDS"],"definition":"A heterogeneous group of diseases characterized by fragility of the soft connective tissues resulting in widespread skin, ligament, joint, blood vessel and/or internal organ manifestations. Clinical spectrum is highly variable, ranging from mild skin and joint hyperlaxity to severe physical disability and life-threatening vascular complications. Overlap with osteogenesis imperfecta may be observed resulting in an EDS/osteogenesis imperfecta overlap phenotype. Diseases in this group include classical Ehlers-Danlos syndrome (EDS), musculocontractural EDS, hypermobile EDS, vascular EDS, arthrochalasia EDS, dermatosparaxis EDS, periodontal EDS, X-linked EDS, brittle cornea syndrome, classical-like EDS type 1 and type 2, cardiac-valvular EDS, spondylodysplastic EDS, myopathic EDS, and kyphoscoliotic EDS.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98249/","orphanet_url":"https://www.orpha.net/en/disease/detail/98249","names":{"fr":{"name":"Syndrome d'Ehlers-Danlos","definition":"Groupe hétérogène de maladies caractérisées par la fragilité des tissus conjonctifs mous entraînant des manifestations étendues et affectant la peau, les ligaments, les articulations, les vaisseaux sanguins et/ou les organes internes. Le spectre clinique est très variable, oscillant entre une légère hyperlaxité de la peau et des articulations et un handicap physique sévère et des complications vasculaires engageant le pronostic vital. Les signes peuvent être confondus avec ceux d'une ostéogenèse imparfaite et font penser à un phénotype évoquant aussi bien le SED que l'ostéogenèse imparfaite. Font partie de ce groupe les maladies suivantes : le syndrome d'Ehlers-Danlos (SED) classique, le SED musculocontractural, le SED hypermobile, le SED de type vasculaire, le SED type arthrochalasique, le SED type dermatosparaxis, le SED parodontal, le SED lié à l'X, le syndrome de la cornée fragile, le SED classique de type 1 et de type 2, le SED type cardiaque valvulaire, le SED spondylodysplasique, le SED myopathique et le SED cyphoscoliotique."},"de":{"name":"Ehlers-Danlos-Syndrom","definition":"Eine heterogene Gruppe von Erkrankungen, die durch Fragilität des weichen Bindegewebes gekennzeichnet ist und zu weit verbreiteten Manifestationen von Haut, Bändern, Gelenken, Blutgefäßen und/oder inneren Organen führt. Das klinische Spektrum ist sehr variabel und reicht von leichter Haut- und Gelenkhyperlaxität bis hin zu schweren körperlichen Behinderungen und lebensbedrohlichen vaskulären Komplikationen. Es können Überlappungen mit Osteogenesis imperfecta beobachtet werden, die zu einem EDS/Osteogenesis imperfecta-Überlappungsphänotyp führen. Zu den Erkrankungen in dieser Gruppe gehören das klassische Ehlers-Danlos-Syndrom (EDS), der muskulo-kontrakturale Typ des EDS, das hypermobile EDS, das vaskuläre EDS, das Arthrochalasie-EDS, das Dermatosparaxie-EDS, das parodontale EDS, das X-chromosomale EDS, das Brittle-Cornea-Syndrom, das klassisch-ähnliche EDS Typ 1 und Typ 2, das kardio-valvuläre EDS, das spondylodysplastische EDS, das myopathische EDS und das kyphoskoliotische EDS."},"es":{"name":"Síndrome de Ehlers-Danlos","synonyms":["SED"],"definition":"Es un grupo heterogéneo de enfermedades caracterizado por la fragilidad de los tejidos conectivos blandos que resultan en manifestaciones generalizadas de la piel, los ligamentos, las articulaciones, la vasculatura y/o los órganos internos. El espectro clínico es altamente variable, desde leve hiperlaxitud cutánea y articular hasta discapacidad física grave y complicaciones vasculares potencialmente mortales. Se puede observar solapamiento con la osteogénesis imperfecta resultando en el fenotipo solapante SED/ osteogénesis imperfecta. Las enfermedades de este grupo incluyen el síndrome de Ehlers-Danlos clásico (SED), SED hipermóvil, SED vascular, SED musculocontractural, SED tipo artrocalasia, SED tipo dermatosparaxis, SED tipo periodontal, SED ligado al cromosoma X, síndrome de córnea frágil, SED similar al clásico tipo 1 y tipo 2, SED valvular cardíaco, SED espondilodisplásico, SED miopático y SED cifoescoliótico."},"it":{"name":"Sindrome di Ehlers-Danlos","synonyms":["EDS"],"definition":"Si tratta di un gruppo eterogeneo di malattie caratterizzate dalla fragilità del tessuto connettivo molle, che causa l'insorgenza di sintomi diffusi a livello della cute, dei legamenti, delle articolazioni, dei vasi sanguigni e/o degli organi interni. Il quadro clinico è molto variabile e va dalla lieve iperlassità cutanea e articolare, fino alla grave disabilità fisica e alle complicanze vascolari potenzialmente letali. La malattia può sovrapporsi all'osteogenesi imperfetta, dando origine ad un fenotipo misto sindrome di Ehlers-Danlos (EDS)/osteogenesi imperfetta. Appartengono a questo gruppo di malattie la EDS classica, la EDS muscolo-contratturale, la EDS ipermobile, la EDS vascolare, la EDS artrocalasia, la EDS dermatosparassi, la EDS periodontale, la EDS legata all'X, la sindrome della cornea fragile, la EDS classica tipo 1 e 2, la EDS cardio-valvolare, la EDS spondilodisplastica, la EDS miopatica e la EDS cifoscoliotica."},"nl":{"name":"Syndroom van Ehlers-Danlos","synonyms":["EDS"],"definition":"Een heterogene groep van ziekten gekarakteriseerd door fragiliteit van de zachte bindweefsels, met wijdverspreide manifestaties aan huid, ligamenten, gewrichten, bloedvaten en/of inwendige organen tot gevolg. Het klinisch spectrum is zeer variabel, gaande van milde hyperlaxiteit van de huid en gewrichten tot ernstige fysieke invaliditeit en levensbedreigende vasculaire complicaties. Overlap met osteogenesis imperfecta kan waargenomen worden, met als resultaat een EDS/osteogenesis imperfecta overlap fenotype. Ziekten in deze groep zijn klassiek syndroom van Ehlers-Danlos (EDS), musculocontracturaal EDS, hypermobiel EDS, vasculair EDS, arthrochalasia EDS, dermatosparaxis EDS, periodontaal EDS, X-gebonden EDS, brittle cornea syndroom, klassiek-gelijkend EDS type 1 en type 2, cardiaal-valvulair EDS, spondylodysplastisch EDS, myopathisch EDS, en kyfoscoliotisch EDS."},"pt":{"name":"Síndrome Ehlers-Danlos"},"pl":{"name":"Zespół Ehlersa i Danlosa","synonyms":["EDS"]},"cs":{"name":"Ehlersův-Danlosův syndrom","synonyms":["Ehlers-Danlosův syndrom"]},"uk":{"name":"Синдром Елерса-Данлоса","synonyms":["EDS"],"definition":"A heterogeneous group of diseases characterized by fragility of the soft connective tissues resulting in widespread skin, ligament, joint, blood vessel and/or internal organ manifestations. Clinical spectrum is highly variable, ranging from mild skin and joint hyperlaxity to severe physical disability and life-threatening vascular complications. Overlap with osteogenesis imperfecta may be observed resulting in an EDS/osteogenesis imperfecta overlap phenotype. Diseases in this group include classical Ehlers-Danlos syndrome (EDS), musculocontractural EDS, hypermobile EDS, vascular EDS, arthrochalasia EDS, dermatosparaxis EDS, periodontal EDS, X-linked EDS, brittle cornea syndrome, classical-like EDS type 1 and type 2, cardiac-valvular EDS, spondylodysplastic EDS, myopathic EDS, and kyphoscoliotic EDS."},"zh":{"name":"Ehlers-Danlos综合征","synonyms":["EDS"],"definition":"本病为一组异质性疾病，其特征是结缔组织脆弱，导致广泛的皮肤、韧带、关节、血管和/或内脏表现。临床表现差异很大，从轻微的皮肤和关节过度松弛到严重的身体残疾和危及生命的血管并发症。可观察到临床表现与成骨不全重叠，即EDS/成骨不全重叠表型。本组疾病包括经典型Ehler-Danlos综合征(EDS)、肌肉挛缩性EDS、高运动性EDS、血管性EDS、关节松弛症EDS、皮肤松弛EDS、牙周EDS、X连锁EDS、脆性角膜综合征、经典型EDS 1型和2型、心脏瓣膜EDS、脊柱发育不良EDS、肌病EDS和脊柱后凸EDS。"},"tr":{"name":"Ehlers-Danlos sendromu","synonyms":["EDS"]}},"xrefs":[{"source":"ICD-10","code":"Q79.6","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD28.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1122707206"},{"source":"MONDO","code":"0020066","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D004535","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0013720","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6322","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10014316","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":619249,"name":"Rare hereditary connective tissue disease","classifications":[156]},{"orpha":182222,"name":"Rare systemic disease","classifications":[196]}],"children":[{"orpha":1899,"name":"Arthrochalasia Ehlers-Danlos syndrome","type":"Disease"},{"orpha":90354,"name":"Brittle cornea syndrome","type":"Disease"},{"orpha":230851,"name":"Cardiac-valvular Ehlers-Danlos syndrome","type":"Disease"},{"orpha":287,"name":"Classical Ehlers-Danlos syndrome","type":"Disease"},{"orpha":230839,"name":"Classical-like Ehlers-Danlos syndrome type 1","type":"Disease"},{"orpha":536532,"name":"Classical-like Ehlers-Danlos syndrome type 2","type":"Disease"},{"orpha":1901,"name":"Dermatosparaxis Ehlers-Danlos syndrome","type":"Disease"},{"orpha":285,"name":"Hypermobile Ehlers-Danlos syndrome","type":"Disease"},{"orpha":536545,"name":"Kyphoscoliotic Ehlers-Danlos syndrome","type":"Disease"},{"orpha":2953,"name":"Musculocontractural Ehlers-Danlos syndrome","type":"Disease"},{"orpha":536516,"name":"Myopathic Ehlers-Danlos syndrome","type":"Disease"},{"orpha":75392,"name":"Periodontal Ehlers-Danlos syndrome","type":"Disease"},{"orpha":536471,"name":"Spondylodysplastic Ehlers-Danlos syndrome","type":"Disease"},{"orpha":286,"name":"Vascular Ehlers-Danlos syndrome","type":"Disease"},{"orpha":636941,"name":"Vascular Ehlers-Danlos-polymicrogyria syndrome","type":"Disease"},{"orpha":75497,"name":"X-linked Ehlers-Danlos syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.9,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}