{"orpha":324353,"name":"Congenital achiasma","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324353/","orphanet_url":"https://www.orpha.net/en/disease/detail/324353","names":{"fr":{"name":"Achiasma congénital","definition":"L'achiasma congénital est une malformation aplasique génétique, rare et non syndromique des nerfs crâniaux et des noyaux, caractérisée par l'absence congénitale de chiasme optique. Cela est dû au fait que les fibres des nerfs optiques ne passent pas dans l'hémisphère contralatéral et n'y décussent pas, ce qui conduit à une diminution de la vision et à un nystagmus congénital dans la petite enfance."},"de":{"name":"Achiasmie, kongenitale","definition":"Das kongenitale Achiasmie ist eine seltene, genetisch bedingte, nicht-syndromale Hirnnerven- und Kernaplasie-Fehlbildung, die durch das angeborene Fehlen des Chiasma opticum gekennzeichnet ist und aus der Unfähigkeit der Sehnervenfasern resultiert, die kontralaterale Hemisphäre zu kreuzen und zu dekussieren, was zu vermindertem Sehvermögen, Schielen und kongenitalem Nystagmus im Säuglingsalter führt."},"es":{"name":"Agenesia congénita de quiasma","definition":"La agenesia congénita del quiasma es una malformación rara, genética y no sindrómica del nervio craneal y aplasia nuclear caracterizada por la ausencia congénita del quiasma óptico, resultante del fracaso de las fibras del nervio óptico para cruzar y decusar al hemisferio contralateral, conduciendo a una pérdida de visión, estrabismo y nistagmo congénito en la infancia."},"it":{"name":"Agenesia congenita del chiasma","definition":"L'agenesia congenita del chiasma è una malformazione genetica rara, non sindromica, con aplasia dei nervi cranici e dei nuclei, caratterizzata dall'assenza congenita del chiasma ottico, secondaria al mancato incrocio e alla decussazione delle fibre del nervo ottico verso l'emisfero controlaterale, che esita nella riduzione della visione, nello strabismo e nel nistagmo congenito durante l'infanzia."},"nl":{"name":"Congenitale achiasme","definition":"Congenitale agenesie van het chiasma is een zeldzame, genetische, niet-syndromale malformatie van een hersenzenuw en nucleaire aplasie, en wordt gekarakteriseerd door de congenitale afwezigheid van het optisch chiasma doordat de vezels van de gezichtszenuwen elkaar niet kruisen naar de contralaterale hemisfeer, met als gevolg een verminderd gezichtsvermogen, strabisme en congenitale nystagmus in de zuigelingentijd."},"pt":{"name":"Aquiasma congénito"},"pl":{"name":"Achiasma wrodzona"},"cs":{"name":"Vrozené achiasma"},"uk":{"name":"Вроджена ахіазма","definition":"Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy."},"zh":{"name":"先天性跟腱","definition":"先天性失认症是一种罕见的遗传性非综合征性脑神经和核发育不全畸形，其特征是先天性视交叉缺失，这是由于视神经纤维不能穿过对侧半球并与之交叉引起的，导致婴儿期视力下降、斜视和先天性眼球震颤。"},"tr":{"name":"Doğumsal akiyazma"}},"xrefs":[{"source":"ICD-10","code":"H47.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017929","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518345","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":729560,"name":"Forebrain malformation","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}