{"orpha":284984,"name":"Aneurysm-osteoarthritis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (incl. long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, anomalies of the palate and uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-284984/","orphanet_url":"https://www.orpha.net/en/disease/detail/284984","names":{"fr":{"name":"Syndrome d'arthrose-anévrisme","definition":"Maladie systémique rare d'origine génétique, caractérisée par la présence d'anévrysmes, d'une tortuosité et d'une dissection des artères d'un bout à l'autre de l'arbre artériel, associée à une arthrose à début précoce (touchant principalement la colonne vertébrale, les mains et/ou les poignets, et les genoux) et à une légère dysmorphie craniofaciale (visage allongé, front haut, arcades sourcilières aplaties, hypertélorisme, hypoplasie malaire et anomalies du palais et de la luette), ainsi qu'à de légères anomalies cutanées et squelettiques. Des anomalies articulaires, telles qu'une ostéochondrite disséquante et une dégénérescence du disque intervertébral, sont fréquemment associées. Parmi les autres anomalies cardiovasculaires peuvent figurer des anomalies de la valve mitrale, des malformations cardiaques congénitales, une hypertrophie ventriculaire et une fibrillation auriculaire."},"de":{"name":"Aneurysma-Osteoarthritis-Syndrom","synonyms":["AOS"],"definition":"Eine seltene, genetische, systemische Erkrankung, die durch das Vorhandensein von arteriellen Aneurysmen, Tortuositäten und Dissektionen im gesamten Arterienbaum gekennzeichnet ist. Sie geht mit früh einsetzender Osteoarthritis, die überwiegend die Wirbelsäule, die Hände und/oder die Handgelenke und die Knie betrifft, sowie mildem kraniofazialen Dysmorphien (inkl. langem Gesicht, hoher Stirn, flacher supraorbitaler Grat, Hypertelorismus, Malarhypoplasie und Uvula-Anomalien (Raphe, breit oder zweigeteilt)) und milden Skelett- und kutanen Anomalien einher. Häufig können Gelenkanomalien, wie Osteochondritis dissecans und Bandscheibendegenerationen vorliegen. Weitere kardiovaskuläre Anomalien sind Mitralklappenfehler, angeborene Herzfehlbildungen, ventrikuläre Hypertrophie und Vorhofflimmern."},"es":{"name":"Síndrome de aneurisma-osteoartritis","definition":"Es una enfermedad sistémica, genética y poco frecuente, caracterizada por la presencia de aneurismas arteriales, tortuosidad y disección a lo largo del árbol arterial, asociada a osteoartritis de inicio temprano (que afecta predominantemente a la columna vertebral, las manos y/o muñecas y las rodillas), así como a leve dismorfia craneofacial (incluyendo cara alargada, frente ancha, crestas supraorbitales planas, hipertelorismo, hipoplasia malar y rafe, úvula ancha o bífida ), así como leves anomalías esqueléticas y cutáneas. Con frecuencia asocia anomalías articulares, tales como osteocondritis disecante y degeneración del disco intervertebral. Otras posibles anomalías cardiovasculares incluyen defectos de la válvula mitral, malformaciones cardíacas congénitas, hipertrofia ventricular y fibrilación auricular."},"it":{"name":"Sindrome aneurisma-osteoartrite","synonyms":["AOS"],"definition":"È una malattia sistemica genetica rara, caratterizzata da aneurismi arteriosi, tortuosità e dissecazione dell'albero arterioso, associate ad osteoartrite ad esordio precoce (con interessamento prevalente della colonna, delle mani e/o dei polsi e delle ginocchia), dismorfismi facciali sfumati (viso allungato, fronte alta, arcate sopraorbitali piatte, ipertelorismo, ipoplasia malare ed ugola ampia o bifida separata da un rafe,) e lievi anomalie scheletriche e cutanee. Spesso i pazienti presentano anomalie delle articolazioni, come l'osteocondrite dissecante e la degenerazione dei dischi intervertebrali. Può associarsi ad altre anomalie cardiovascolari, come i difetti della valvola mitrale, le cardiopatie congenite, l'ipertrofia ventricolare e la fibrillazione atriale."},"nl":{"name":"Aneurysma - osteoartritis-syndroom","definition":"Een zeldzame, genetische, systemische ziekte gekarakteriseerd door de aanwezigheid van arteriële aneurysmata, tortuositeit en dissectie doorheen de arteriële vertakkingen, geassocieerd met vroeg aanvangende osteoartritis (voornamelijk aan de ruggengraat, handen en/of polsen, en knieën) en milde craniofaciale dysmorfie (met onder meer lang gezicht, hoog voorhoofd, platte supraorbitale randen, hypertelorisme, hypoplasie van de jukbeenderen, en een raphe op de huig of een brede of bifide huig), alsook milde skelet- en huidanomalieën. Gewrichtsanomalieën, zoals osteochondritis dissecans en degeneratie van tussenwervelschijven, zijn frequent geassocieerd. Mogelijke bijkomende cardiovasculaire anomalieën zijn onder meer defecten van de mitralisklep, congenitale hartmalformaties, ventrikelhypertrofie en atriumfibrillatie."},"pt":{"name":"Síndrome aneurisma - osteoartrite"},"pl":{"name":"Zespół tętniaka i zapalenia kości i stawów","synonyms":["AOS"]},"cs":{"name":"Syndrom zahrnující aneuryzma a osteoartrózu","synonyms":["AOS"]},"uk":{"name":"Аневризмоостеоартрозний синдром","definition":"A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (incl. long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, anomalies of the palate and uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation."},"zh":{"name":"动脉瘤-骨关节炎综合征","definition":"一种罕见的遗传性全身性疾病，其特征是动脉瘤、整个动脉树迂曲和出现夹层，与早发性骨关节炎（主要累及脊柱、手和/或腕部和膝部）和轻度颅面畸形（包括长脸、额头高、眶上脊扁平、眶距增宽，颧骨发育不良，有中缝、宽或双歧悬雍垂），以及轻度骨骼和皮肤异常。关节异常，如骨软骨炎和椎间盘退化，常与之相关。其他心血管异常包括二尖瓣缺损、先天性心脏畸形、心室肥大和心房颤动。"},"tr":{"name":"Anevrizma-osteoartrit sendromu"}},"xrefs":[{"source":"OMIM","code":"613795","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1510157060"},{"source":"MONDO","code":"0013426","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4760764","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10997","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":284993,"name":"Marfan syndrome and Marfan-related disorders","classifications":[156,196]},{"orpha":285014,"name":"Rare disease with thoracic aortic aneurysm and aortic dissection","classifications":[156,186,198]}],"children":[],"genes":[{"symbol":"SMAD3","name":"SMAD family member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22167769[PMID]","hgnc":"6769","ensembl":"ENSG00000166949","omim":"603109","loci":["15q22.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":45.0,"area":"Worldwide","status":"Validated","source":"22167769[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-20","source":"22167769[PMID]_21217753[PMID]_21778426[PMID]","terms":[{"hpo":"HP:0002617","label":"Dilatation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011645","label":"Dilatation of the sinus of Valsalva","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025487","label":"Abnormality of bladder morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002647","label":"Aortic dissection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005294","label":"Arterial dissection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005116","label":"Arterial tortuosity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012432","label":"Chronic fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004944","label":"Dilatation of the cerebral artery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005086","label":"Knee osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004268","label":"Osteoarthritis of the small joints of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003179","label":"Protrusio acetabuli","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001065","label":"Striae distensae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000139","label":"Uterine prolapse","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005112","label":"Abdominal aortic aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005110","label":"Atrial fibrillation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001519","label":"Disproportionate tall stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100775","label":"Dural ectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008419","label":"Intervertebral disc degeneration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010886","label":"Osteochondritis Dissecans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003302","label":"Spondylolisthesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Excluded (0%)","criteria":null}]}}