{"orpha":1118,"name":"Fibular aplasia-ectrodactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1118/","orphanet_url":"https://www.orpha.net/en/disease/detail/1118","names":{"fr":{"name":"Syndrome d'aplasie du péroné-ectrodactylie","definition":"Dysostose génétique congénitale rare caractérisée par une aplasie (ou hypoplasie) fibulaire associée à une ectrodactylie et/ou une brachydactylie ou une syndactylie. Parmi les autres caractéristiques cliniques variables figurent notamment le raccourcissement du fémur, des malformations au niveau du tibia, de la hanche, du genou et/ou de la cheville."},"de":{"name":"Fibula-Aplasie-Ektrodaktylie-Syndrom","definition":"Eine seltene, genetisch bedingte, kongenitale Form der Dysostose, die durch eine Fibulaaplasie (oder -hypoplasie) in Verbindung mit Ektrodaktylie und/oder Brachydaktylie oder Syndaktylie gekennzeichnet ist. Mögliche zusätzliche Symptome sind Verkürzung des Femur, gebogene Tibia, schwere Fußfehlbildungen und Veränderungen von Hüfte, Knie und Fußgelenk."},"es":{"name":"Síndrome de aplasia de peroné-ectrodactilia","definition":"Es un síndrome epiléptico poco frecuente de origen genético caracterizado por epilepsia, telangiectasias conjuntivales palpebrales, discapacidad intelectual de muy leve a moderada, niveles reducidos de IgA sérica, acortamiento del quinto dedo de la mano y rasgos faciales dismórficos (incluyendo hirsutismo frontal, sinofridia, narinas antevertidas, orejas prominentes, filtrum largo, implantes dentales irregulares, micrognatia). No se han descrito más casos en la literatura desde 1978."},"it":{"name":"Sindrome da aplasia del perone-ectrodattilia","definition":"Si tratta di una disostosi congenita genetica rara, caratterizzata da aplasia (o ipoplasia) del perone, associata a ectrodattilia e/o brachidattilia o sindattilia. Altri segni clinici variabili sono l'accorciamento del femore e i difetti della tibia, dell'anca, del ginocchio e/o della caviglia."},"nl":{"name":"Fibulaire aplasie - ectrodactylie-syndroom","definition":"Een zeldzame, genetische, congenitale dysostose gekarakteriseerd door aplasie (of hypoplasie) van het kuitbeen, geassocieerd met ectrodactylie en/of brachydactylie of syndactylie. Bijkomende variabele kenmerken zijn onder meer verkorting van het dijbeen, alsook defecten aan scheenbeen, heup, knie, en/of enkel."},"pt":{"name":"Síndrome de aplasia da fíbula-ectrodactilia"},"pl":{"name":"Aplazja kości strzałkowej - ektrodaktylia"},"cs":{"name":"Syndrom zahrnující aplázii fibuly a ektrodaktylii"},"uk":{"name":"Синдром фібулярної аплазії-ектродактилії","definition":"A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additonal variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects."},"zh":{"name":"腓骨发育不良-缺指(趾)畸形综合征"},"tr":{"name":"Fibular aplazi-ektrodaktili sendrom"}},"xrefs":[{"source":"OMIM","code":"113310","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q73.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1707230506"},{"source":"MONDO","code":"0007225","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537930","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303759","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2331","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294957,"name":"Dysostosis with combined reduction defects of upper and lower limbs","classifications":[147,156,199]},{"orpha":498477,"name":"Ectrodactyly with and without other manifestations","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001622","label":"Premature birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006492","label":"Aplasia/Hypoplasia of the fibula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Frequent (79-30%)","criteria":null}]}}