{"orpha":536532,"name":"Classical-like Ehlers-Danlos syndrome type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AEBP1-related EDS","AEBP1-related Ehlers-Danlos syndrome","Classical-like EDS type 2","clEDS type 2"],"definition":"A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-536532/","orphanet_url":"https://www.orpha.net/en/disease/detail/536532","names":{"fr":{"name":"Syndrome d'Ehlers-Danlos classique-like type 2","synonyms":["SED associé à AEBP1","SED classique-like type 2","SEDcl type 2","Syndrome d'Ehlers-Danlos associé à AEBP1"],"definition":"Maladie systémique rare caractérisée par une hypermobilité articulaire généralisée et des luxations articulaires récurrentes, une peau redondante et hyperextensible cicatrisant difficilement et formant des cicatrices anormales, ayant tendance aux ecchymoses et l'ostéopénie/ostéoporose. Les autres manifestations sont l'hypotonie, le retard de développement moteur, les déformations des pieds, un réseau veineux apparent dans la zone thoracique, les complications vasculaires (telles que le prolapsus de la valve mitrale et la dilatation de la racine aortique), les hernies, les anomalies dentaires, la scoliose et les dysmorphies faciales (un palais haut ou étroit, une micrognathie). La maladie est transmise selon le mode autosomique récessif."},"de":{"name":"Ehlers-Danlos-Syndrom, klassisch-ähnlicher Typ 2","synonyms":["EDS, AEBP1-assoziiertes","EDS, klassisch-ähnliches, Typ 2","Ehlers-Danlos-Syndrom, AEBP1-abhängiger Typ","clEDS Typ 2"],"definition":"Eine seltene Systemerkrankung, die gekennzeichnet ist durch eine generalisierte Gelenkhypermobilität mit rezidivierenden Gelenkdislokationen, redundante und hyperextensible Haut mit schlechter Wundheilung und abnormer Narbenbildung, leichte Blutergüsse und Osteopenie/Osteoporose. Weitere Erscheinungsformen sind Hypotonie, verzögerte motorische Entwicklung, Fußdeformitäten, ausgeprägte oberflächliche Venen im Brustbereich, vaskuläre Komplikationen (wie Mitralklappenprolaps und Aortenwurzelerweiterung), Hernien, Zahnanomalien, Skoliose und Gesichtsdysmorphien (wie hoher Gaumen, Mikrognathie, schmaler Gaumen). Der Vererbungsmodus ist autosomal-rezessiv."},"es":{"name":"Síndrome de Ehlers-Danlos similar al tipo clásico 2","synonyms":["SED asociado al gen AEBP1","SED similar al tipo clásico 2","Síndrome de Ehlers-Danlos asociado al gen AEBP1"],"definition":"Es una enfermedad sistémica poco frecuente caracterizada por hipermovilidad articular generalizada con luxaciones articulares recurrentes, piel redundante e hiperextensible con una curación deficiente de las heridas y cicatrización anómala, así como propensión a hematomas y osteopenia/osteoporosis. Otras manifestaciones adicionales incluyen hipotonía, retraso del desarrollo motor, deformidades del pie, venas superficiales prominentes en la región torácica, complicaciones vasculares (tales como prolapso de la válvula mitral y dilatación de la raíz aórtica), hernias, anomalías dentales, escoliosis y dismorfia facial (paladar ojival y estrecho y micrognatia). El modo de herencia es autosómico recesivo."},"it":{"name":"Sindrome di Ehlers-Danlos simil-classica tipo 2","definition":"Si tratta di una malattia sistemica rara, caratterizzata da ipermobilità articolare generalizzata associata a dislocazioni articolari ricorrenti, cute ridondante e iperelastica, ridotta cicatrizzazione e cicatrici anomale, tendenza alle ecchimosi e osteopenia/osteoporosi. Altri segni clinici sono l'ipotonia, il ritardo dello sviluppo motorio, le deformità dei piedi, la presenza di un circolo venoso evidente sul trace, le complicanze vascolari (prolasso della valvola mitrale e dilatazione della radice dell'aorta), le ernie, le anomalie dei denti, la scoliosi e i dismorfismi facciali (palato ogivale, micrognazia, palato stretto). La trasmissione è autosomica recessiva."},"nl":{"name":"Klassiek-gelijkend syndroom van Ehlers-Danlos type 2","synonyms":["AEBP1-gerelateerd EDS","AEBP1-gerelateerd syndroom van Ehlers-Danlos","Klassiek-gelijkend EDS type 2","clEDS type 2"],"definition":"Een zeldzame systemische ziekte, gekarakteriseerd door gegeneraliseerde gewrichtshypermobiliteit met terugkerende gewrichtsdislocaties, overtollige en hyperelastische huid met ondermaatse wondheling en abnormale littekenvorming, gevoeligheid voor kneuzing, en osteopenie/osteoporose. Bijkomende manifestaties zijn onder meer hypotonie, vertraagde motorische ontwikkeling, voetmisvormingen, opvallende oppervlakkige aders op de borstkas, vasculaire complicaties (zoals mitralisklepprolaps en dilatatie van aortawortel), hernia's, gebitsanomalieën, scoliose, en faciale dysmorfie (zoals hoog verhemelte, micrognathie, smal verhemelte). Overerving gebeurt autosomaal recessief."},"pt":{"name":"Síndrome Ehlers-Danlos semelhante ao clássico tipo 2"},"pl":{"name":"Zespół podobny do klasycznego zespołu Ehlersa i Danlosa typu 2","synonyms":["AEBP1-related EDS","AEBP1-related Ehlers-Danlos syndrome","Classical-like EDS type 2","clEDS type 2"]},"cs":{"name":"Ehlersův-Danlosův syndrom, typ 2 podobný klasickému","synonyms":["clEDS, typ 2","AEBP1-vázaný EDS","EDS, typ 2 podobný klasickému","AEBP1-vázaný Ehlersův-Danlosův syndrom","Ehlers-Danlosův syndrom, typ 2 podobný klasickému","AEBP1-vázaný Ehlers-Danlosův syndrom"]},"uk":{"name":"Класичний синдром Елерса-Данлоса, тип 2","synonyms":["EDS, повязані з AEBP1","Синдром Елерса-Данлоса, повязаний з AEBP1","Класичний EDS типу 2","clEDS type 2"],"definition":"A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive."},"zh":{"name":"经典肌病性埃勒斯-当洛斯综合征2型","synonyms":["Classical-like EDS type 2"],"definition":"一种罕见的全身性疾病，其特征是全身关节活动过度，关节反复脱位，皮肤冗余和过度伸展，伤口愈合不良和异常瘢痕，容易瘀伤，骨质减少/骨质疏松。其他表现还包括肌张力低下、运动发育迟缓、足畸形、胸部浅静脉突出、血管并发症（如二尖瓣脱垂和主动脉根部扩张）、疝气、牙齿畸形、脊柱侧弯、面部畸形（如高腭、小颌、窄腭）等。遗传方式为常染色体隐性遗传。"},"tr":{"name":"Klasik benzeri Ehlers-Danlos sendromu tip 2","synonyms":["clEDS tip 2","AEBP1-ilişkili EDS","Klasik benzeri EDS tip 2","AEBP1 ilişkili Ehlers-Danlos sendromu"]}},"xrefs":[{"source":"OMIM","code":"618000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0054813","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4693870","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":93446,"name":"Primary bone dysplasia with decreased bone density","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"AEBP1","name":"AE binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30759870[PMID]","hgnc":"303","ensembl":"ENSG00000106624","omim":"602981","loci":["7p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"30759870[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30759870[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-13","source":"30759870[PMID]_29606302[PMID]_27023906[PMID]","terms":[{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001765","label":"Hammertoe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Very frequent (99-80%)","criteria":null},{"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:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031158","label":"Widened atrophic scar","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004976","label":"Knee dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025509","label":"Piezogenic pedal papules","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007457","label":"Prominent veins on trunk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002933","label":"Ventral hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001780","label":"Abnormality of toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002616","label":"Aortic root aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025232","label":"Bursitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100546","label":"Carotid artery stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100658","label":"Cellulitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003994","label":"Dislocated wrist","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008138","label":"Equinus calcaneus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010829","label":"Impaired temperature sensition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010810","label":"Long uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000189","label":"Narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000704","label":"Periodontitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006243","label":"Phalangeal dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006480","label":"Premature loss of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006439","label":"Radioulnar dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003834","label":"Shoulder dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009938","label":"Sunken cheeks","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002943","label":"Thoracic scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000692","label":"Tooth malposition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002619","label":"Varicose veins","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Occasional (29-5%)","criteria":null}]}}