{"orpha":285,"name":"Hypermobile Ehlers-Danlos syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EDS III","EDS-HT","Ehlers-Danlos syndrome hypermobility type","Ehlers-Danlos syndrome type 3","Hypermobile EDS","hEDS"],"definition":"Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-285/","orphanet_url":"https://www.orpha.net/en/disease/detail/285","names":{"fr":{"name":"Syndrome d'Ehlers-Danlos hypermobile","synonyms":["EDS III","EDS-HT","EDSh","SED III","SEDh","Syndrome d'Ehlers-Danlos type 3"],"definition":"Le syndrome d'Ehlers-Danlos type hypermobile est la forme la plus fréquente de SED , groupe de maladies héréditaires du tissu conjonctif caractérisées par une hyper-laxité articulaire, une légère hyper-extensibilité cutanée, une fragilité tissulaire et des manifestations extra-musculo-squelettiques."},"de":{"name":"Ehlers-Danlos-Syndrom, hypermobiler Typ","synonyms":["hEDS","EDS III","EDS-HT","Ehlers-Danlos-Syndrom Typ 3","Hypermobiles EDS","Hypermobiles Ehlers-Danlos-Syndrom"]},"es":{"name":"Síndrome de Ehlers-Danlos hipermóvil","synonyms":["SED III","SED hipermóvil","Síndrome de Ehlers-Danlos tipo 3","Síndrome de Ehlers-Danlos tipo hipermovilidad"],"definition":"El síndrome de Ehlers-Danlos, tipo hipermóvil (HT-EDS) es la forma más frecuente del EDS, un grupo de enfermedades hereditarias del tejido conectivo, y se caracteriza por hiperlaxitud articular, hiperextensibilidad cutánea leve, fragilidad tisular y manifestaciones extra-muscoloesqueléticas."},"it":{"name":"Sindrome di Ehlers-Danlos tipo ipermobile","synonyms":["EDS III","EDS ipermobile","HT-EDS","Sindrome di Ehlers-Danlos, tipo 3","Sindrome di Ehlers-Danlos, tipo ipermobilità","hEDS"],"definition":"La sindrome di Ehlers-Danlos tipo ipermobile (HT-EDS) è la forma più frequente di EDS, un gruppo di malattie ereditarie del tessuto connettivo. È caratterizzata da iperlassità articolare, lieve iperestensibilità cutanea, fragilità dei tessuti e sintomi extra-muscolo-scheletrici."},"nl":{"name":"Hypermobiel syndroom van Ehlers-Danlos","synonyms":["EDS III","EDS-HT","Hypermobiel EDS","Syndroom van Ehlers-Danlos type 3","Syndroom van Ehlers-Danlos, hypermobiliteit-type","hEDS"]},"pt":{"name":"Síndrome Ehlers-Danlos hipermobilidade","synonyms":["EDS III","Síndrome Ehlers-Danlos tipo 3"]},"pl":{"name":"Zespół Ehlersa i Danlosa z nadmierną ruchomością stawów","synonyms":["Łagodny zespół nadmiernej ruchomości stawów","Zespół Ehlersa i Danlosa, typ hipermobilny"]},"cs":{"name":"Ehlersův-Danlosův syndrom, hypermobilní typ","synonyms":["BJHS","Syndrom benigní kloubní hypermobility","EDS III","HT-EDS","Ehlersův-Danlosův syndrom, typ 3","Ehlers-Danlosův syndrom, hypermobilní typ","Ehlers-Danlosův syndrom, typ 3"]},"uk":{"name":"Синдром гіпермобільності Елерса-Данлоса","synonyms":["EDS III","EDS-HT","Синдром Елерса-Данлоса, гіпермобільний тип","Синдром Елерса-Данлоса, тип 3","hEDS","Гіпермобільний EDS"],"definition":"Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations."},"zh":{"name":"过度活动Ehlers-Danlos综合征","synonyms":["Ehlers-Danlos综合征运动过强型"]},"tr":{"name":"Hipermobil Ehlers-Danlos sendromu","synonyms":["HEDS","EDS-HT","EDS III","Ehlers-Danlos sendromu tip 3","Ehlers-Danlos sendromu hipermobilite tipi"]}},"xrefs":[{"source":"OMIM","code":"130020","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":"24232012"},{"source":"MONDO","code":"0007523","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536196","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268337","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2081","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":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":12.5,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-09-21","source":"20301456[PMID]","terms":[{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001063","label":"Acrocyanosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","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: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:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012532","label":"Chronic pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100541","label":"Femoral hernia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031607","label":"Pelvic organ prolapse","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025509","label":"Piezogenic pedal papules","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002035","label":"Rectal prolapse","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000977","label":"Soft skin","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001065","label":"Striae distensae","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012732","label":"Anorectal anomaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002616","label":"Aortic root aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010318","label":"Aplasia/Hypoplasia of the abdominal wall musculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005294","label":"Arterial dissection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004970","label":"Ascending tubular aorta aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100645","label":"Cystocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002579","label":"Gastrointestinal dysmotility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100823","label":"Genital hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000230","label":"Gingivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011003","label":"High myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000563","label":"Keratoconus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032152","label":"Keratosis pilaris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0400008","label":"Menometrorrhagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100550","label":"Tendon rupture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0005293","label":"Venous insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}