{"orpha":230857,"name":"Ehlers-Danlos/osteogenesis imperfecta syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EDS/OI syndrome"],"definition":"A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-230857/","orphanet_url":"https://www.orpha.net/en/disease/detail/230857","names":{"fr":{"name":"Syndrome d'Ehlers-Danlos/ostéogenèse imparfaite","synonyms":["Syndrome EDS/OI","Syndrome SED/OI"],"definition":"Maladie systémique rare caractérisée par les signes communs au syndrome d'Ehlers-Danlos et ceux de l'ostéogenèse imparfaite. Les principales manifestations cliniques sont une hypermobilité et des luxations articulaires généralisées, une hyperextensibilité et/ou une translucidité de la peau, une tendance aux ecchymoses, invariablement associés aux signes légers d'ostéogenèse imparfaite, notamment une petite taille, les sclérotiques bleutées et une ostéopénie ou des fractures."},"de":{"name":"Ehlers-Danlos/Osteogenesis imperfecta-Syndrom","synonyms":["EDS/OI-Syndrom"],"definition":"Eine seltene Systemerkrankung, bei der die Merkmale des Ehlers-Danlos-Syndroms mit denen der Osteogenesis imperfecta kombiniert sind. Zu den vorherrschenden klinischen Manifestationen gehören eine generalisierte Hypermobilität der Gelenke und Gelenkdislokationen, eine Hyperextensibilität und/oder Transluzenz der Haut, leichte Blutergüsse und eine unveränderliche Assoziation mit leichten Anzeichen von Osteogenesis imperfecta, einschließlich Kleinwuchs, blauer Sklera und Osteopenie oder Frakturen."},"es":{"name":"Síndrome de Ehlers-Danlos/osteogénesis imperfecta","synonyms":["Síndrome SED/OI"],"definition":"Es una enfermedad sistémica poco frecuente caracterizada por la asociación de rasgos del síndrome de Ehlers-Danlos y de la osteogénesis imperfecta. Las manifestaciones clínicas predominantes incluyen hipermovilidad articular generalizada y luxaciones, hiperextensibilidad y/o translucidez de la piel y propensión a hematomas, asociadas de forma variable a signos leves de osteogénesis imperfecta, que incluyen talla baja, escleróticas azules y osteopenia o fracturas."},"it":{"name":"Sindrome di Ehlers-Danlos/osteogenesi imperfetta","synonyms":["Sindrome di EDS/OI"],"definition":"Si tratta di una malattia sistemica rara, caratterizzata dai segni clinici della sindrome di Ehlers-Danlos associati a quelli dell'osteogenesi imperfetta. I principali segni clinici comprendono l'ipermobilità articolare generalizzata e le dislocazioni, l'iperestensibilità e/o la traslucenza della cute, e la tendenza alle ecchimosi, che si associano sempre ai segni lievi dell'osteogenesi imperfetta (bassa statura, sclere blu e osteopenia o fratture)."},"nl":{"name":"Ehlers-Danlos/osteogenesis imperfecta-syndroom","synonyms":["EDS/OI-syndroom"],"definition":"Een zeldzame, systemische ziekte, gekarakteriseerd door de associatie van de kenmerken van syndroom van Ehlers-Danlos en de kenmerken van osteogenesis imperfecta. De overheersende klinische manifestaties omvatten gegeneraliseerde hypermobiliteit en dislocaties van gewrichten, hyperelastische en/of doorschijnende huid, gevoeligheid voor kneuzing, steeds geassocieerd met milde tekenen van osteogenesis imperfecta, waaronder kleine gestalte, blauwe sclera, en osteopenie of fracturen."},"pt":{"name":"Síndrome Ehlers-Danlos/osteogenesis imperfecta","synonyms":["Síndrome EDS/OI"]},"pl":{"name":"Zespół Ehlersa i Danlosa/wrodzona łamliwość kości","synonyms":["Zespół EDS/OI"]},"cs":{"name":"Syndrom osteogenesis imperfecta/Ehlersův-Danlosův","synonyms":["OI/EDS syndrom","Syndrom osteogenesis imperfecta/Ehlers-Danlosův"]},"uk":{"name":"Синдром Елерса-Данлоса/недосконалого остеогенезу","synonyms":["Синдром EDS/ОІ"],"definition":"A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures."},"zh":{"name":"埃勒斯-当洛斯/成骨不全综合征","synonyms":["EDS/OI 综合征"],"definition":"一种罕见的全身性疾病，其特征是Ehlers-Danlos综合征的特征伴其他成骨不全的特征。主要临床表现包括全身性关节活动过度和脱位、皮肤过度伸展和/或半透明、易挫伤，始终伴有轻度成骨不全症状，包括身材矮小、蓝色巩膜、骨质减少或骨折。"},"tr":{"name":"Ehlers-Danlos/osteogenezis imperfekta sendromu","synonyms":["EDS / OI sendromu"]}},"xrefs":[{"source":"OMIM","code":"619115","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619120","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"370611021"},{"source":"MONDO","code":"0016470","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518787","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":228215,"name":"Genetic dermis elastic tissue disorder","classifications":[156,187]},{"orpha":93446,"name":"Primary bone dysplasia with decreased bone density","classifications":[147,156,199]},{"orpha":139030,"name":"Rare developmental defect with connective tissue involvement","classifications":[147,156]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]},{"orpha":619249,"name":"Rare hereditary connective tissue disease","classifications":[156]},{"orpha":182222,"name":"Rare systemic disease","classifications":[196]}],"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":"15728585[PMID]_23692737[PMID]_25674388[PMID]","hgnc":"2197","ensembl":"ENSG00000108821","omim":"120150","loci":["17q21.33"]},{"symbol":"COL1A2","name":"collagen type I alpha 2 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23692737[PMID]","hgnc":"2198","ensembl":"ENSG00000164692","omim":"120160","loci":["7q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET_23692737[PMID]"}],"phenotypes":null}