{"orpha":287,"name":"Classical Ehlers-Danlos syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Classical EDS","cEDS"],"definition":"A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-287/","orphanet_url":"https://www.orpha.net/en/disease/detail/287","names":{"fr":{"name":"Syndrome d'Ehlers-Danlos classique","synonyms":["EDS classique","EDSc","SED classique","SEDc"],"definition":"Anomalie rare du tissu conjonctif d'origine héréditaire caractérisée par une hyperextensibilité de la peau, de larges cicatrices atrophiques et une hypermobilité articulaire généralisée."},"de":{"name":"Ehlers-Danlos-Syndrom, klassischer Typ","synonyms":["EDS, klassisches","cEDS"],"definition":"Eine seltene vererbte Bindegewebsstörung, die durch eine Überdehnbarkeit der Haut, verbreiterte atrophische Narben und eine generalisierte Gelenkhypermobilität gekennzeichnet ist."},"es":{"name":"Síndrome de Ehlers-Danlos clásico","synonyms":["SED clásico"],"definition":"Es una forma hereditaria y poco frecuente del síndrome de Ehlers-Danlos que afecta al tejido conectivo caracterizada por hiperextensibilidad de la piel, cicatrices atróficas ensanchadas e hipermovilidad articular generalizada."},"it":{"name":"Sindrome di Ehlers-Danlos tipo classico","synonyms":["EDS, tipo classico"],"definition":"La sindrome di Ehlers-Danlos tipo classico (cEDS) è una malattia rara ereditaria del tessuto connettivo, caratterizzata da iperestensibilità della cute, ampie cicatrici atrofiche e ipermobilità articolare generalizzata."},"nl":{"name":"Klassiek syndroom van Ehlers-Danlos","synonyms":["Klassiek EDS","cEDS"],"definition":"Een zeldzame, erfelijke aandoening van bindweefsel, gekarakteriseerd door hyperextensibiliteit van huid, brede atrofische littekens, en gegeneraliseerde gewrichtshypermobiliteit."},"pt":{"name":"Síndrome Ehlers-Danlos clássico"},"pl":{"name":"Zespół Ehlersa i Danlosa, typ klasyczny","synonyms":["EDS, typ klasyczny"],"definition":"Rzadka dziedziczna choroba tkanki łącznej charakteryzująca się zwiększoną elastycznością skóry, nieprawidłowym bliznowaceniem i uogólnioną nadmierną ruchomością stawów."},"cs":{"name":"Ehlersův-Danlosův syndrom, klasický typ","synonyms":["EDS, klasický typ","Ehlers-Danlosův syndrom, klasický typ"]},"uk":{"name":"Класичний синдром Елерса-Данлоса","synonyms":["cEDS","Класичний EDS"],"definition":"A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility."},"zh":{"name":"经典型Ehlers-Danlos综合征","synonyms":["经典型EDS"]},"tr":{"name":"Klasik Ehlers-Danlos sendromu","synonyms":["cEDS","Klasik EDS"]}},"xrefs":[{"source":"OMIM","code":"130000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"130010","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1724920772"},{"source":"MONDO","code":"0007522","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225429","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2088","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":75501,"name":"OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type","status":"inactive"},{"type":"Referred to","orpha":90309,"name":"OBSOLETE: Ehlers-Danlos syndrome type 1","status":"inactive"},{"type":"Referred to","orpha":90318,"name":"OBSOLETE: Ehlers-Danlos syndrome type 2","status":"inactive"},{"type":"Moved to","orpha":230845,"name":"Vascular-like classical Ehlers-Danlos syndrome","status":"inactive"}],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":98249,"name":"Ehlers-Danlos syndrome","classifications":[147,156,187,196]},{"orpha":167762,"name":"Rare disease with dentinogenesis imperfecta","classifications":[156,197]},{"orpha":108979,"name":"Syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]},{"orpha":180779,"name":"Syndromic diaphragmatic or thoracic malformation","classifications":[186]}],"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":"10739762[PMID]","hgnc":"2197","ensembl":"ENSG00000108821","omim":"120150","loci":["17q21.33"]},{"symbol":"COL5A1","name":"collagen type V alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15580559[PMID]_22696272[PMID]","hgnc":"2209","ensembl":"ENSG00000130635","omim":"120215","loci":["9q34.3"]},{"symbol":"COL5A2","name":"collagen type V alpha 2 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15580559[PMID]_22696272[PMID]","hgnc":"2210","ensembl":"ENSG00000204262","omim":"120190","loci":["2q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Worldwide","status":"Validated","source":"20301422[PMID]_20847697[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-27","source":"20301422[PMID]_28192633[PMID]_29121166[PMID]","terms":[{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001073","label":"Cigarette-paper scars","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002761","label":"Generalized joint hypermobility","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001027","label":"Soft, doughy skin","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001065","label":"Striae distensae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012450","label":"Chronic constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001058","label":"Poor wound healing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003771","label":"Pulp calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000481","label":"Abnormal cornea morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031653","label":"Abnormal heart valve physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010754","label":"Abnormality of the temporomandibular joint","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001063","label":"Acrocyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002616","label":"Aortic root aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005294","label":"Arterial dissection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025019","label":"Arterial rupture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004947","label":"Arteriovenous fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000015","label":"Bladder diverticulum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010749","label":"Blepharochalasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0030009","label":"Cervical insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010750","label":"Dermatochalasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004944","label":"Dilatation of the cerebral artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003083","label":"Dislocated radial head","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0031364","label":"Ecchymosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002036","label":"Hiatus hernia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004872","label":"Incisional hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009763","label":"Limb pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000993","label":"Molluscoid pseudotumors","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002999","label":"Patellar dislocation","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006243","label":"Phalangeal dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025509","label":"Piezogenic pedal papules","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001788","label":"Premature rupture of membranes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007495","label":"Prematurely aged appearance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003010","label":"Prolonged bleeding time","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002035","label":"Rectal prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003834","label":"Shoulder dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025014","label":"Subcutaneous spheroids","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000139","label":"Uterine prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001278","label":"Orthostatic hypotension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001704","label":"Tricuspid valve prolapse","frequency":"Very rare (<4-1%)","criteria":null}]}}