{"orpha":85170,"name":"Mesomelic dysplasia, Savarirayan type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mesomelic dysplasia with absent fibulas and triangular tibias","Triangular tibia-fibular aplasia syndrome"],"definition":"Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85170/","orphanet_url":"https://www.orpha.net/en/disease/detail/85170","names":{"fr":{"name":"Dysplasie mésomélique type Savarirayan","synonyms":["Dysplasie mésomélique avec absence de fibula et tibias triangulaires","Syndrome de tibia triangulaire-aplasie fibulaire"],"definition":"La dysplasie mésomélique de type Savarirayan est caractérisée par des tibias hypoplasiques et triangulaires, et une absence de péronés. A ce jour, deux cas sporadiques ont été décrits. Une mésomélie modérée des membres supérieurs, un élargissement proximal des cubitus, des anomalies du bassin et une importante hypoplasie bilatérale de la cavité glénoïde ont également été rapportés."},"de":{"name":"Dysplasie, mesomele, Typ Savarirayan","synonyms":["Mesomele Dysplasie mit dreiwinkligem Schienbein und fehlendem Wadenbein","Trianguläre Tibia - Fibula-Aplasie"],"definition":"Der Typ Savarirayan der Mesomelen Dysplasie ist gekennzeichnet durch schwer hypoplastische, dreieckige Schienbeine und fehlende Wadenbeine."},"es":{"name":"Displasia mesomélica tipo Savarirayan","definition":"Es un trastorno caracterizado por tibias marcadamente hipoplásicas y de forma triangular, y ausencia de peroné. Hasta la fecha se han notificado dos casos esporádicos. También se ha descrito mesomelia moderada de los miembros superiores, ensanchamiento proximal del cúbito, anomalías pélvicas y marcada hipoplasia glenoidea bilateral."},"it":{"name":"Displasia mesomelica, tipo Savarirayan","synonyms":["Displasia mesomelica con peroni assenti e tibie triangolari","Tibia a triangolo - aplasia della fibula"]},"nl":{"name":"Mesomele dysplasie, Savarirayan-type","synonyms":["Driehoekige tibia - fibulaire aplasie-syndroom","Mesomele dysplasie met afwezige fibulae en driehoekige tibiae"],"definition":"Mesomele dysplasie, Savarirayan-type wordt gekenmerkt door ernstig hypoplastische en driehoekige tibiae, en afwezigheid van fibulae. Tot op heden werden twee sporadische gevallen beschreven. Matige mesomelie van bovenste ledematen, proximale verbreding van ulna, anomalieën van bekken, en uitgesproken bilaterale hypoplasie van glenoïd (schoudergewrichtskom) werden ook gerapporteerd."},"pt":{"name":"Displasia mesomélica, tipo Savarirayan"},"pl":{"name":"Dysplazja mezomeliczna, typ Savarirayan","synonyms":["Dysplazja mezomeliczna z brakiem kości strzałkowych i trójkątnymi kośćmi piszczelowymi","Trójkątna kość piszczelowa - aplazja kości strzałkowej"]},"cs":{"name":"Mezomelická dysplázie, Savarirayanův typ","synonyms":["Syndrom zahrnující trojúhelníkovité tibie a fibulární aplázii","Mezomelická dysplázie s chybějícími fibulami a trojúhelníkovitými tibiemi"]},"uk":{"name":"Мезомелічна дисплазія, тип Саваріраяна","synonyms":["Мезомелічна дисплазія з відсутніми малогомілковими та трикутними великогомілковими кістками","Синдром трикутної аплазії великогомілкової кістки"],"definition":"Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported."},"zh":{"name":"肢中骨发育不良，Savarirayan型","synonyms":["肢中骨发育不良伴腓骨缺失和三角胫骨"]},"tr":{"name":"Mezomelik displazi, Savarirayan tipi","synonyms":["Üçgen tibia-fibular aplazi sendromu","Fibulaları ve üçgen tibiaları olmayan mezomelik displazi"]}},"xrefs":[{"source":"OMIM","code":"605274","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.A","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1627637820"},{"source":"MONDO","code":"0011530","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565349","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854470","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10584","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93438,"name":"Mesomelic and rhizo-mesomelic dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"17702012[PMID]","terms":[{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006413","label":"Broad tibial metaphyses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002990","label":"Fibular aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004018","label":"Flared radial metaphysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006633","label":"Glenoid fossa hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008808","label":"High iliac wings","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006434","label":"Hypoplasia of proximal radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003027","label":"Mesomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010508","label":"Metatarsus valgus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002868","label":"Narrow iliac wings","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null}]}}