{"orpha":435804,"name":"Short stature-advanced bone age-early-onset osteoarthritis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, primary bone dysplasia characterized by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-435804/","orphanet_url":"https://www.orpha.net/en/disease/detail/435804","names":{"fr":{"name":"Syndrome de petite taille-âge osseux avancé-arthrose précoce","definition":"Dysplasie osseuse primaire rare caractérisée par une petite taille proportionnée, un arrêt précoce de la croissance osseuse, une maturation osseuse accélérée, la présence inconstante d'une ostéoarthrite à début précoce et d'une ostéochondrite disséquante, ainsi que par des examens endocriniens normaux. Les caractéristiques inconstantes de la dysmorphie sont une macrocéphalie légère à relative, une saillie des bosses frontales, une hypoplasie de l'étage moyen du visage, un pont nasal plat, une brachydactylie, de larges pouces et une lordose."},"de":{"name":"Kleinwuchs-beschleunigte Knochenalterung-früh beginnende Osteoarthritis-Syndrom","definition":"Eine seltene, primäre Knochendysplasie, die charakterisiert ist durch eine proportionale Kleinwüchsigkeit, ein frühes Einstellen des Knochenwachstums, eine beschleunigte Skelettreifung, das variable Vorhandensein einer früh einsetzenden Osteoarthritis und Osteochondritis dissecans bei normaler endokriner Beurteilung. Zu den variablen dysmorphen Merkmalen gehören leichte bis relative Makrozephalie, Balkonstirn, Mittelgesichtshypoplasie, flacher Nasenrücken, Brachydaktylie, breite Daumen und Lordose."},"es":{"name":"Síndrome de talla baja-edad ósea avanzada-osteoartritis de inicio precoz","definition":"Es una displasia ósea primaria poco frecuente caracterizada por talla baja proporcionada, cese temprano del crecimiento óseo, maduración esquelética acelerada, presencia variable de osteoartritis de inicio temprano y osteocondritis disecante con parámetros endocrinos normales. Los rasgos dismórficos variables incluyen macrocefalia de leve a moderada, frente prominente, hipoplasia mediofacial, puente nasal plano, braquidactilia, pulgares anchos y lordosis."},"it":{"name":"Sindrome da bassa statura, età ossea avanzata ed osteoartrite ad esordio precoce","definition":"È una displasia scheletrica primitiva rara, caratterizzata da bassa statura proporzionata, interruzione precoce della crescita ossea, accelerazione della maturazione scheletrica, presenza variabile di osteoartrite ad esordio precoce e osteocondrite dissecante. Il quadro endocrino è normale. Si associa a dismorfismi facciali, che comprendono la macrocefalia, da lieve a relativa, la fronte bombata, l'ipoplasia medio-facciale, la sella nasale piatta, la brachidattilia, i pollici larghi e la lordosi."},"nl":{"name":"Kleine gestalte - gevorderde botleeftijd - vroeg beginnende osteoartritis-syndroom","definition":"Een zeldzame, primaire botdysplasie gekarakteriseerd door een proportioneel kleine gestalte, vroege stagnatie van de botgroei, versnelde maturatie van het skelet, variabele aanwezigheid van vroeg aanvangende osteoartritis en osteochondritis dissecans, en normale endocriene parameters. De variabele dysmorfe kenmerken omvatten milde tot relatieve macrocefalie, boller voorhoofd, hypoplasie van het middengezicht, platte neusbrug, brachydactylie, brede duimen, en lordose."},"pt":{"name":"Síndrome de baixa estatura-idade óssea avançada-osteoartrite de início precoce"},"pl":{"name":"Zespół niskiego wzrostu, zaawansowanego wieku kostnego i zapalenia kości i stawów o wczesnym początku"},"cs":{"name":"Syndrom zahrnující malý vzrůst, urychlený kostní věk a osteoartrózu s časným nástupem"},"uk":{"name":"Синдром низькорослості-збільшеного кісткового віку-раннього остеоартрозу","definition":"A rare, primary bone dysplasia characterized by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis."},"zh":{"name":"身材矮小-骨龄过高-早发性骨关节炎综合征","definition":"罕见的原发性骨发育不良，其特征是成比例发身材矮小，骨骼生长提前停止，骨骼成熟加速，早发性骨关节炎和剥离性骨软骨炎，内分泌评估正常。其他畸形特征包括轻度至相对的巨颅畸形，前额隆起，面部中部发育不全，鼻梁扁平，短指畸形，拇指宽大和脊柱前凸。"},"tr":{"name":"Kısa boy-ileri kemik yaşı-erken başlangıçlı osteoartrit sendromu"}},"xrefs":[{"source":"OMIM","code":"165800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018566","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681177","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":364526,"name":"Primary bone dysplasia","classifications":[147,156,199]},{"orpha":674499,"name":"Proteoglycan-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"ACAN","name":"aggrecan","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24762113[PMID]","hgnc":"319","ensembl":"ENSG00000157766","omim":"155760","loci":["15q26.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"24762113[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24762113[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-11-14","source":"24762113[PMID]","terms":[{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007281","label":"Developmental stagnation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Occasional (29-5%)","criteria":null}]}}