{"orpha":230839,"name":"Classical-like Ehlers-Danlos syndrome type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Classical-like EDS type 1","Ehlers-Danlos syndrome due to tenascin-X deficiency","clEDS type 1"],"definition":"A form of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, fragile and thin hand skin breaks or bruises easily), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-230839/","orphanet_url":"https://www.orpha.net/en/disease/detail/230839","names":{"fr":{"name":"Syndrome d'Ehlers-Danlos classique-like type 1","synonyms":["EDS classique-like type 1","SED classique-like type 1","SEDcl type 1","Syndrome d'Ehlers-Danlos par déficit en ténascine-X"],"definition":"Forme de syndrome d'Ehlers-Danlos (SED) caractérisée par une hypermobilité articulaire généralisée, une peau hyperextensible avec tendance aux ecchymoses sans former de cicatrices atrophiques. Les autres caractéristiques communes sont les déformations des pieds et des mains (papules piézogéniques, pieds plats, avant-pied large, brachydactylie et aspect acrogérique de la peau des mains), une fatigue importante et des symptômes neuromusculaires, notamment une faiblesse musculaire et une myalgie."},"de":{"name":"Ehlers-Danlos-Syndrom, klassisch-ähnlicher Typ 1","synonyms":["EDS, klassisch-ähnliches, Typ 1","Ehlers-Danlos-Syndrom durch Tenascin-X-Mangel","clEDS Typ 1"],"definition":"Eine Form des Ehlers-Danlos-Syndroms, die durch eine generalisierte Gelenkhypermobilität, eine Überdehnbarkeit der Haut und leichte Blutergüsse ohne atrophische Narbenbildung gekennzeichnet ist. Weitere häufige Merkmale sind Fehlbildungen der Füße und Hände (piezoelektrische Papeln, Pes planus, breite Vorderfüße, Brachydaktylie und akrogerische Haut der Hände), starke Müdigkeit und neuromuskuläre Symptome wie Muskelschwäche und Myalgie."},"es":{"name":"Síndrome de Ehlers-Danlos similar al tipo clásico 1","synonyms":["SED similar al tipo clásico 1","Síndrome de Ehlers-Danlos por deficiencia de tenascina-X"],"definition":"Es una forma de síndrome de Ehlers-Danlos caracterizado por hipermovilidad articular generalizada, hiperextensibilidad de la piel y hematomas fáciles sin cicatrices atróficas. Otras características comunes incluyen malformaciones en los pies y las manos (pápulas piezogénicas, pie plano, antepié ancho, braquidactilia y piel de las manos acrogénica), fatiga grave y síntomas neuromusculares que incluyen debilidad muscular y mialgia."},"it":{"name":"Sindrome di Ehlers-Danlos simil-classica tipo 1","synonyms":["EDS, tipo simil-classico","Sindrome di Ehlers-Danlos da deficit di tenascina-X"],"definition":"La sindrome di Ehlers-Danlos da deficit di tenascina-X è un sottotipo della sindrome di Ehlers-Danlos, caratterizzato da ipermobilità articolare generalizzata, iperestensibilità cutanea e tendenza alle ecchimosi, in assenza di cicatrici atrofiche. Altri segni clinici comuni sono le deformità dei piedi e delle mani (papule piezogeniche, piede piatto, allargamento dell'avampiede, brachidattilia, cute delle mani fragile e sottile con tendenza alla fissurazione e alle ecchimosi), grave affaticamento e sintomi neuromuscolari (debolezza muscolare e mialgia)."},"nl":{"name":"Klassiek-gelijkend syndroom van Ehlers-Danlos type 1","synonyms":["Klassiek-gelijkend EDS type 1","Syndroom van Ehlers-Danlos door tenascine-X-deficiëntie","clEDS type 1"],"definition":"Een vorm van syndroom van Ehlers-Danlos, gekarakteriseerd door gegeneraliseerde gewrichtshypermobiliteit, hyperextensibiliteit van huid, en vatbaarheid voor kneuzing zonder atrofische littekenvorming. Overige gangbare kenmerken zijn onder meer hand- en voetmisvormingen (piëzogene papels, pes planus (platvoet), brede handen, brachydactylie, en acrogerie van handen), ernstige vermoeidheid en neuromusculaire symptomen waaronder spierzwakte en myalgie."},"pt":{"name":"Síndrome de Ehlers-Danlos, tipo clássico-like"},"pl":{"name":"Zespół Ehlersa i Danlosa z powodu niedoboru tenascyny-X","synonyms":["EDS, typ podobny do klasycznego","Zespół Ehlersa i Danlosa, typ podobny do klasycznego"],"definition":"*Zespół Ehlersa i Danlosa z powodu niedoboru tenascyny X to jeden z podtypów zespołu Ehlersa i Danlosa, który charakteryzuje się uogólnioną nadmierną ruchomością stawów, nadmierną rozciągliwością skóry i łatwym powstawaniem siniaków bez blizn zanikowych. Inne typowe objawy to deformacje stóp i dłoni (piezogeniczne guzki – przepukliny tłuszczowe, płaskostopie, szerokie śródstopie, krótkie palce i skóra dłoni z cechami starzenia się), silna męczliwość i objawy nerwowo-mięśniowe, w tym osłabienie i bóle mięśni."},"cs":{"name":"Ehlersův-Danlosův syndrom způsobený deficitem tenascinu-X","synonyms":["EDS, typ podobný klasickému","Ehlersův-Danlosův syndrom, typ podobný klasickému","Ehlers-Danlosův syndrom způsobený deficitem tenascinu-X","Ehlers-Danlosův syndrom, typ podobný klasickému"]},"uk":{"name":"Класичний синдром Елерса-Данлоса, тип 1","synonyms":["Класичний EDS типу 1","clEDS тип 1","Синдром Елерса-Данлоса внаслідок дефіциту тенасцину-Х"],"definition":"A form of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, fragile and thin hand skin breaks or bruises easily), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia."},"zh":{"name":"经典样埃勒斯-当洛斯综合征1型","synonyms":["固生蛋白X缺乏所致埃勒斯-当洛斯综合征"],"definition":"腱糖蛋白-X缺乏所致Ehlers-Danlos综合征是一种全身性关节活动过度、皮肤过度伸展、易挫伤、无萎缩性瘢痕形成的Ehlers-Danlos综合征。其他常见特征包括足部和手部畸形（压迫性丘疹、扁平足、前脚宽、短指畸形和手部皮肤顶生）、包括肌无力和肌痛的严重疲劳与神经肌肉症状。"},"tr":{"name":"Klasik-benzeri Ehlers-Danlos sendromu tip 1","synonyms":["CLEDS tip 1","Klasik-benzeri EDS tip 1","Tenascin-X eksikliğine bağlı Ehlers-Danlos sendromu"]}},"xrefs":[{"source":"OMIM","code":"606408","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1840696236"},{"source":"MONDO","code":"0011670","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536193","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848029","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8507","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":"TNXB","name":"tenascin XB","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11642233[PMID]","hgnc":"11976","ensembl":"ENSG00000168477","omim":"600985","loci":["6p21.33-p21.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"27582382[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27582382[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-03-18","source":"32572181[PMID]_36108117[PMID]_37712068[PMID]_28306229[PMID]","terms":[{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000978","label":"Bruising susceptibility","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:0000977","label":"Soft skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007420","label":"Spontaneous hematomas","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001769","label":"Broad foot","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012095","label":"Multiple joint dislocation","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0025509","label":"Piezogenic pedal papules","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001058","label":"Poor wound healing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009381","label":"Short finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004942","label":"Aortic aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005222","label":"Bowel diverticulosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002636","label":"Dilatation of an abdominal artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031368","label":"Intestinal perforation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030771","label":"Mallet finger","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0011891","label":"Post-partum hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001788","label":"Premature rupture of membranes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002035","label":"Rectal prolapse","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0005203","label":"Spontaneous esophageal perforation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011896","label":"Subconjunctival hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000139","label":"Uterine prolapse","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009130","label":"Hand muscle atrophy","frequency":"Very rare (<4-1%)","criteria":"Diagnostic criterion"},{"hpo":"HP:6001172","label":"Increased compartment pressure","frequency":"Very rare (<4-1%)","criteria":null}]}}