{"orpha":1901,"name":"Dermatosparaxis Ehlers-Danlos syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Dermatosparaxis EDS","Ehlers-Danlos syndrome type 7C","Human dermatosparaxis EDS VIIC","dEDS"],"definition":"A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1901/","orphanet_url":"https://www.orpha.net/en/disease/detail/1901","names":{"fr":{"name":"Syndrome d'Ehlers-Danlos type dermatosparaxis","synonyms":["EDS VIIC","SED VIIC","SED dermatosparaxique","SEDd","Syndrome d'Ehlers-Danlos type 7C"],"definition":"Forme de syndrome d'Ehlers-Danlos (SED) caractérisée par une extrême fragilité et laxité de la peau, des traits caractéristiques du visage, une tendance aux ecchymoses et, parfois, des complications majeures dues à la fragilité viscérale et vasculaire."},"de":{"name":"Ehlers-Danlos-Syndrom, Dermatosparaxis Typ","synonyms":["EDS VII C","Ehlers-Danlos-Syndrom Typ 7C","Humane Dermatosparaxie EDS VIIC","dEDS"],"definition":"Eine seltene Form des Ehlers-Danlos-Syndroms (EDS), die durch extreme Hautbrüchigkeit und -erschlaffung, eine ausgeprägte Gesichtsform, übermäßige Blutergüsse und manchmal schwere Komplikationen aufgrund von viszeraler und vaskulärer Brüchigkeit gekennzeichnet ist."},"es":{"name":"Síndrome de Ehlers-Danlos dermatosparaxis","synonyms":["SED VIIC dermatosparaxis humana","SED dermatosparaxis","Síndrome de Ehlers-Danlos tipo 7C"],"definition":"Es una forma del síndrome de Ehlers-Danlos (EDS) que se caracteriza por una extremada fragilidad y laxitud de la piel, una facies característica destacada, excesiva tendencia a la formación de hematomas y, en ocasiones, complicaciones importantes debido a la fragilidad visceral y vascular."},"it":{"name":"Sindrome di Ehlers-Danlos con dermatosparassia","synonyms":["EDS tipo dermatosparassia","EDS tipo dermatosparassia umana VIIC","Sindrome di Ehlers-Danlos, tipo 7C","dEDS"],"definition":"Si tratta di una forma della sindrome di Ehlers-Danlos (EDS) caratterizzata da marcata lassità e fragilità della cute, facies caratteristica, tendenza alle ecchimosi e, in alcuni pazienti, gravi complicanze correlate alla fragilità viscerale e vascolare."},"nl":{"name":"Syndroom van Ehlers-Danlos, dermatosparaxis-type","synonyms":["EDS, dermatosparaxis-type","Humaan dermatosparaxis EDS VIIC","Syndroom van Ehlers-Danlos type 7C","dEDS"],"definition":"Een vorm van syndroom van Ehlers-Danlos (EDS), gekarakteriseerd door extreme fragiliteit en laxiteit van huid, prominente gelaatskenmerken, excessieve kneuzing en, soms, ernstige complicaties door viscerale en vasculaire fragiliteit."},"pt":{"name":"Síndrome de dermatosparaxia Ehlers-Danlos","synonyms":["EDS VII C","Síndrome Ehlers-Danlos tipo dermatosparaxis"]},"pl":{"name":"Zespół Ehlersa i Danlosa z dermatosparaxis (skórny)","synonyms":["Dermatosparaxis EDS","Ehlers-Danlos syndrome type 7C","Human dermatosparaxis EDS VIIC","dEDS"]},"cs":{"name":"Ehlersův-Danlosův syndrom, typ dermatosparaxis","synonyms":["EDS VIIC","Ehlersův-Danlosův syndrom, typ 7C","Ehlers-Danlosův syndrom, typ dermatosparaxis","Ehlers-Danlosův syndrom, typ 7C"]},"uk":{"name":"Синдром Елерса-Данлоса, дерматоспараксис","synonyms":["dEDS","EDS з dermatosparaxis","Синдром Елерса-Данлоса, тип 7С","Дерматоспаракс людини EDS VIIC"],"definition":"A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility."},"zh":{"name":"皮肤脆裂症型Ehlers-Danlos综合征","synonyms":["人皮肤脆裂症型EDS VIIIC"]},"tr":{"name":"Dermatosparaxis Ehlers-Danlos sendromu","synonyms":["DEDS","Ehlers-Danlos sendromu tip 7C","İnsan dermatosparaksisi EDS VIIC"]}},"xrefs":[{"source":"OMIM","code":"225410","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":"445808781"},{"source":"MONDO","code":"0009161","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2700425","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2089","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]}],"children":[],"genes":[{"symbol":"ADAMTS2","name":"ADAM metallopeptidase with thrombospondin type 1 motif 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10417273[PMID]","hgnc":"218","ensembl":"ENSG00000087116","omim":"604539","loci":["5q35.3"]},{"symbol":"ADAMTSL2","name":"ADAMTS like 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33369194[PMID]","hgnc":"14631","ensembl":"ENSG00000197859","omim":"612277","loci":["9q34.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"26765342[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26765342[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-04-14","source":"26765342[PMID]_39641471[PMID]_28306229[PMID]","terms":[{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0007392","label":"Excessive wrinkled skin","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0007605","label":"Excessive wrinkling of palmar skin","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002761","label":"Generalized joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002036","label":"Hiatus hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:6001125","label":"Skin laceration","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001933","label":"Subcutaneous hemorrhage","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008067","label":"Abnormally lax or hyperextensible skin","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"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:0000212","label":"Gingival overgrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001788","label":"Premature rupture of membranes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001027","label":"Soft, doughy skin","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002035","label":"Rectal prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null}]}}