{"orpha":440221,"name":"Congenital oculomotor nerve palsy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital CNIII lesion","Congenital third cranial nerve palsy"],"definition":"A rare ophthalmic disorder with cranial nerve involvement characterized by partial or complete ptosis and ophthalmoplegia with impaired ability to elevate, depress, or adduct the eyeball, causing strabismus and amblyopia. The pupils can also be dilated. The condition is typically unilateral and may present with or without aberrant regeneration.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-440221/","orphanet_url":"https://www.orpha.net/en/disease/detail/440221","names":{"fr":{"name":"Paralysie congénitale du nerf oculomoteur","synonyms":["Lésion CNIII congénitale","Paralysie congénitale du troisième nerf crânien"],"definition":"Maladie ophtalmique rare avec atteinte des nerfs crâniens caractérisée par un ptosis et une ophtalmoplégie partiels ou complets avec un déficit d'élévation, d'abaissement et d'adduction du globe oculaire, entraînant un strabisme et une amblyopie. Les pupilles peuvent également être dilatées. La maladie est généralement unilatérale et peut se manifester avec ou sans signes de régénération aberrante."},"de":{"name":"Okulomotoriusparese, kongenitale","synonyms":["Hirnnerv III-Lähmung, kongenitale","Hirnnerv III-Läsion, kongenitale","Kongenitale Lähmung des Nervus oculomotorius"],"definition":"Eine seltene Augenerkrankung mit Beteiligung des Hirnnervs, die durch partielle oder vollständige Ptose und Ophthalmoplegie mit beeinträchtigter Fähigkeit, den Augapfel zu heben, zu senken oder zu führen, gekennzeichnet ist und Schielen und Amblyopie verursacht. Auch die Pupillen können geweitet sein. Die Erkrankung ist in der Regel einseitig und kann mit oder ohne aberrante Regeneration auftreten."},"es":{"name":"Parálisis congénita del nervio oculomotor","synonyms":["Lesión congénita CNIII","Parálisis congénita benigna del tercer par craneal"],"definition":"Es una anomalía ocular poco frecuente con afectación del par craneal, caracterizada por oftalmoplejía y ptosis parcial o completa con una alteración de la capacidad para elevar, deprimir o aducir el globo ocular, provocando estrabismo y ambliopía. Las pupilas también pueden estar dilatadas. El trastorno es típicamente unilateral, pudiendo presentarse con o sin regeneración aberrante."},"it":{"name":"Paralisi congenita del nervo oculomotore","synonyms":["Lesione congenita del CNIII","Paralisi congenita del terzo nervo cranico"],"definition":"Si tratta di una malattia oculare rara, con interessamento dei nervi cranici, caratterizzata da ptosi parziale o completa e oftalmoplegia, con compromissione della capacità di sollevamento, abbassamento e adduzione del globo oculare, che esita nello strabismo e nell'ambliopia. Le pupille possono essere dilatate. Di solito la malattia è monolaterale e può associarsi ad anomalie della rigenerazione."},"nl":{"name":"Congenitale paralyse van nervus oculomotorius","synonyms":["Congenitale CNIII-laesie","Congenitale verlamming van derde hersenzenuw"],"definition":"Een zeldzame oftalmische aandoening met betrokkenheid van hersenzenuw, gekarakteriseerd door partiële of volledige ptose en oftalmoplegie met verstoorde elevatie, depressie, of adductie van de oogbal, wat leidt tot strabisme en amblyopie. Dilatatie van pupillen kan ook optreden. De aandoening is doorgaans unilateraal en kan zich presenteren met of zonder aberrante regeneratie."},"pt":{"name":"Paralisia congénita do nervo oculomotor"},"pl":{"name":"Wrodzone porażenie nerwu okoruchowego","synonyms":["Wrodzone porażenie trzeciego nerwu czaszkowego","Wrodzone uszkodzenie CNIII"]},"cs":{"name":"Vrozená paréza nervus oculomotorius","synonyms":["Vrozená léze n.III","Vrozená paréza třetího kraniálního nervu"]},"uk":{"name":"Вроджений параліч окорухового нерва","synonyms":["Вроджене ураження СНІІІ","Вроджений параліч третього черепно-мозкового нерва"],"definition":"A rare ophthalmic disorder with cranial nerve involvement characterized by partial or complete ptosis and ophthalmoplegia with impaired ability to elevate, depress, or adduct the eyeball, causing strabismus and amblyopia. The pupils can also be dilated. The condition is typically unilateral and may present with or without aberrant regeneration."},"zh":{"name":"先天性动眼神经麻痹","synonyms":["先天性第三颅神经麻痹"],"definition":"罕见的一种颅神经受累的眼科疾病，特征在于部分或完全上睑下垂和眼肌麻痹，眼球上转、下转、内收能力受损，引起斜视和弱视。瞳孔也可扩大。这种情况通常是单侧发病的，可能出现或不出现异常增生。"},"tr":{"name":"Doğumsal okülomotor sinir felci","synonyms":["Doğumsal CNIII lezyon","Doğumsal üçüncü kraniyal sinir felci"]}},"xrefs":[{"source":"ICD-10","code":"Q07.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C81.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2135160463"},{"source":"MONDO","code":"0018599","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680054","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98685,"name":"Rare oculomotor nerve disorder","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[],"phenotypes":null}