{"orpha":1899,"name":"Arthrochalasia Ehlers-Danlos syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Arthrochalasia EDS","Arthrochalasis multiplex congenita","EDS VII","Ehlers-Danlos syndrome type 7","Ehlers-Danlos syndrome, arthrochalasia type","aEDS"],"definition":"A form of Ehlers-Danlos syndrome (EDS) characterized by congenital bilateral hip dislocation, severe generalized joint hypermobility with recurrent joint dislocations and subluxations, hyperextensible and/or fragile skin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1899/","orphanet_url":"https://www.orpha.net/en/disease/detail/1899","names":{"fr":{"name":"Syndrome d'Ehlers-Danlos type arthrochalasique","synonyms":["EDS VII","SED VII","SEDa","Syndrome d'Ehlers-Danlos type 7"],"definition":"Forme de syndrome d'Ehlers-Danlos (SED) caractérisée par une luxation bilatérale congénitale de la hanche, une hypermobilité articulaire généralisée sévère avec des luxations et subluxations articulaires récurrentes, une peau hyperextensible et/ou fragile."},"de":{"name":"Ehlers-Danlos-Syndrom, Arthrochalasie-Typ","synonyms":["Arthrochalasie EDS","Arthrochalasis multiplex congenita","EDS VII","Ehlers-Danlos-Syndrom Typ 7","aEDS"],"definition":"Eine Form des Ehlers-Danlos-Syndroms (EDS), die durch eine angeborene beidseitige Hüftdislokation, eine schwere generalisierte Gelenkhypermobilität mit wiederkehrenden Gelenkdislokationen und Subluxationen sowie eine hyperextensible und/oder fragile Haut gekennzeichnet ist."},"es":{"name":"Síndrome de Ehlers-Danlos artrocalasia","synonyms":["Artrocalasia múltiple congénita","SED VII","SED atrocalasia","Síndrome de Ehlers-Danlos tipo 7","Síndrome de Ehlers-Danlos tipo artrocalasia"],"definition":"Es una forma del síndrome de Ehlers-Danlos (SED) caracterizada por luxación congénita bilateral de cadera, hipermovilidad articular generalizada grave acompañada de luxaciones y subluxaciones articulares recurrentes y piel hiperextensible y/o frágil."},"it":{"name":"Sindrome di Ehlers-Danlos tipo artrocalasico","synonyms":["Artrocalasia multipla congenita","EDS VII","EDS tipo artrocalasico","Sindrome di Ehlers-Danlos, tipo 7","Sindrome di Ehlers-Danlos, tipo artrocalasia","aEDS"],"definition":"La sindrome di Ehlers-Danlos tipo artrocalasico (aEDS) è una forma della sindrome di Ehlers-Danlos (EDS), caratterizzata da dislocazione congenita bilaterale dell'anca, ipermobilità articolare grave e generalizzata associata a dislocazioni e sublussazioni ricorrenti, e a cute iperelastica e/o fragile."},"nl":{"name":"Syndroom van Ehlers-Danlos, artrochalasie-type","synonyms":["Arthrochalasis multiplex congenita","EDS VII","EDS, artrochalasie-type","Syndroom van Ehlers-Danlos type 7","aEDS"],"definition":"Een vorm van syndroom van Ehlers-Danlos (EDS), gekarakteriseerd door congenitale bilaterale luxatie van heup, ernstige gegeneraliseerde gewrichtshypermobiliteit met terugkerende luxaties en subluxaties van gewrichten, en hyperelastische en/of fragiele huid."},"pt":{"name":"Síndrome de artroclasia Ehlers-Danlos","synonyms":["Artroclasis multiplex congénita","EDS VII","Síndrome Ehlers-Danlos tipo artrocalásico"]},"pl":{"name":"Zespół Ehlersa i Danlosa z artrochalazją (wiotkością stawów)","synonyms":["Zespół Ehlersa i Danlosa, typ z wiotkością stawów"]},"cs":{"name":"Ehlersův-Danlosův syndrom, typ arthrochalasis multiplex","synonyms":["EDS VII","Ehlersův-Danlosův syndrom, typ VII","Ehlers-Danlosův syndrom, typ arthrochalasis multiplex","Ehlers-Danlosův syndrom, typ VII"]},"uk":{"name":"Синдром Елерса-Данлоса, артрохалазія","synonyms":["AEDS","EDS з артрохалазією","Вроджений множинний артрохалязіс","EDS VII","Синдром Елерса-Данлоса, тип 7","Синдром Елерса-Данлоса, тип артрохалазії"],"definition":"A form of Ehlers-Danlos syndrome (EDS) characterized by congenital bilateral hip dislocation, severe generalized joint hypermobility with recurrent joint dislocations and subluxations, hyperextensible and/or fragile skin."},"zh":{"name":"关节松弛型Ehlers-Danlos综合征","synonyms":["Ehlers-Danlos综合征关节松弛型"]},"tr":{"name":"Artrokalazi Ehlers-Danlos sendromu","synonyms":["AEDS","EDS VII","Ehlers-Danlos sendromu tip 7","Artrokalazis multipleks doğumsal","Ehlers-Danlos sendromu, artrokalazi tipi"]}},"xrefs":[{"source":"OMIM","code":"130060","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"617821","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"96808187"},{"source":"MONDO","code":"0007525","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268345","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2084","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":99875,"name":"OBSOLETE: Ehlers-Danlos syndrome type 7A","status":"inactive"},{"type":"Referred to","orpha":99876,"name":"OBSOLETE: Ehlers-Danlos syndrome type 7B","status":"inactive"}],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":98249,"name":"Ehlers-Danlos syndrome","classifications":[147,156,187,196]}],"children":[],"genes":[{"symbol":"COL1A1","name":"collagen type I alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9295084[PMID]_1867198[PMID]","hgnc":"2197","ensembl":"ENSG00000108821","omim":"120150","loci":["17q21.33"]},{"symbol":"COL1A2","name":"collagen type I alpha 2 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9295084[PMID]_8071956[PMID]","hgnc":"2198","ensembl":"ENSG00000164692","omim":"120160","loci":["7q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-03-23","source":"28306229[PMID]_35162892[PMID]_40615270[PMID]_32091183[PMID]","terms":[{"hpo":"HP:0005743","label":"Avascular necrosis of the capital femoral epiphysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008780","label":"Congenital bilateral hip dislocation","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002761","label":"Generalized joint hypermobility","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012095","label":"Multiple joint dislocation","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000977","label":"Soft skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001623","label":"Breech presentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000703","label":"Dentinogenesis imperfecta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100541","label":"Femoral hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001788","label":"Premature rupture of membranes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006150","label":"Swan neck-like deformities of the fingers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Occasional (29-5%)","criteria":null}]}}