{"orpha":98686,"name":"Congenital trochlear nerve palsy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital CNIV palsy","Congenital fourth cranial nerve palsy","Congenital superior oblique palsy"],"definition":"A rare ophthalmic disorder with cranial nerve involvement characterized by dysfunction of the superior oblique muscle with typical eye motility patterns including elevation in adduction, V-pattern related to reduced abduction force in downgaze with unopposed adduction by the inferior rectus muscle, and excyclotorsion. Patients may present with contralateral head tilt to compensate for vertical binocular misalignment and diplopia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98686/","orphanet_url":"https://www.orpha.net/en/disease/detail/98686","names":{"fr":{"name":"Paralysie congénitale du nerf trochléaire","synonyms":["Paralysie CNIV congénitale","Paralysie congénitale de l'oblique supérieure","Paralysie congénitale du quatrième nerf crânien"],"definition":"Maladie ophtalmique rare avec atteinte des nerfs crâniens, caractérisée par un dysfonctionnement du muscle oblique supérieur avec des schémas typiques de motilité oculaire, notamment une élévation en adduction, le syndrome V dû à une déviation en ésotropie plus importante dans le regard vers le bas ou une déviation en exotropie plus importante dans le regard vers le haut, et l'excyclotorsion. Les patients peuvent présenter une inclinaison controlatérale de la tête pour compenser le désalignement oculaire vertical et une diplopie."},"de":{"name":"Trochlearislähmung, kongenitale","synonyms":["Hirnnerv IV-Lähmung, kongenitale","Kongenitale Lähmung des Musculus obliquus superior","Kongenitale Lähmung des Nervus trochlearis","Kongenitale Parese des vierten Hirnnerven"],"definition":"Eine seltene Augenerkrankung mit Hirnnervenbeteiligung, die durch eine Dysfunktion des Musculus obliquus superior mit typischen Augenmotilitätsmustern gekennzeichnet ist, darunter Elevation bei Adduktion, V-Muster in Verbindung mit reduzierter Abduktionskraft beim Abwärtsblick mit ungehinderter Adduktion durch den Musculus rectus inferior und Exzyklotorsion. Die Patienten können eine kontralaterale Kopfneigung aufweisen, um eine vertikale binokulare Fehlstellung und Diplopie auszugleichen."},"es":{"name":"Parálisis congénita del nervio troclear","synonyms":["Parálisis CNIV congénita","Parálisis congénita del cuarto nervio craneal","Parálisis congénita del cuarto par craneal","Parálisis congénita del oblicuo superior"],"definition":"Es una anomalía ocular poco frecuente con afectación de los pares craneales caracterizada por una disfunción del músculo oblicuo superior acompañada de unos patrones de motilidad ocular típicos que incluyen elevación en aducción, patrón en V asociado a una disminución de la fuerza de abducción en la mirada hacia abajo junto con una aducción sin oposición del músculo recto inferior y exciclotorsión. Los pacientes pueden presentar una inclinación contralateral de la cabeza para compensar la desalineación binocular vertical y la diplopía."},"it":{"name":"Paralisi congenita del nervo trocleare","synonyms":["Paralisi congenita del CNIV","Paralisi congenita del quarto nervo cranico"],"definition":"Si tratta di una malattia oculare rara con interessamento dei nervi cranici, caratterizzata dalla disfunzione del muscolo obliquo superiore. Le anomalie del movimento oculare caratteristiche comprendono l'elevazione in adduzione, l'aspetto a V correlato alla riduzione della forza di abduzione nello sguardo verso il basso con adduzione non controllata da parte del muscolo retto inferiore, e l'exciclotorsione. I pazienti possono presentare un'inclinazione controlaterale del capo per compensare il disallineamento verticale binoculare e la diplopia."},"nl":{"name":"Congenitale paralyse van nervus trochlearis","synonyms":["Congenitale verlamming van bovenste schuine oogspier","Congenitale verlamming van katrolzenuw","Congenitale verlamming van vierde hersenzenuw","Congenitale CNIV-verlamming","Congenitale paralyse van musculus obliquus superior"],"definition":"Een zeldzame oftalmische aandoening met betrokkenheid van hersenzenuw, gekarakteriseerd door disfunctie van musculus obliquus superior (bovenste schuine oogspier) met typische patronen van oculaire motiliteit, waaronder elevatie in adductie, V-patroon gerelateerd aan gereduceerde abductiekracht bij neerwaartse blik met ongehinderde adductie door musculus rectus inferior (onderste rechte oogspier), en extorsie. Patiënten presenteren zich mogelijk met contralaterale kanteling van het hoofd als compensatie voor verticale binoculaire foutieve uitlijning en diplopie."},"pt":{"name":"Paralisia do nervo troclear congénita","synonyms":["Paralisia CNIV congénita","Paralisia do oblíquo superior congénita","Paralisia do quarto nervo cranial congénita"]},"pl":{"name":"Wrodzone porażenie nerwu bloczkowego","synonyms":["Wrodzone porażenie CNIV","Wrodzone porażenie czwartego nerwu czaszkowego"]},"cs":{"name":"Vrozená obrna trochleárního nervu","synonyms":["Vrozená CNIV obrna","Vrozená obrna čtvrtého hlavového nervu"]},"uk":{"name":"Вроджений параліч блоковидного нерва","synonyms":["Вроджений CNIV параліч","Вроджений параліч четвертого черепно-мозкового нерва","Вроджений верхній косий параліч"],"definition":"A rare ophthalmic disorder with cranial nerve involvement characterized by dysfunction of the superior oblique muscle with typical eye motility patterns including elevation in adduction, V-pattern related to reduced abduction force in downgaze with unopposed adduction by the inferior rectus muscle, and excyclotorsion. Patients may present with contralateral head tilt to compensate for vertical binocular misalignment and diplopia."},"zh":{"name":"先天性滑车神经麻痹","synonyms":["先天性第四颅神经麻痹"],"definition":"一种罕见的颅神经受累眼科疾病，其特征是上斜肌功能障碍，典型的眼球运动模式包括内收升高，与俯视时外展力量降低有关的V型运动，下直肌不对位内收，外旋。患者可能会出现对侧头部倾斜，以补偿垂直双眼不对准和复视。"},"tr":{"name":"Doğumsal troklear sinir felci","synonyms":["Doğumsal CNIV felci","Doğumsal süperior oblik felç","Doğumsal dördüncü kraniyal sinir felci"]}},"xrefs":[{"source":"ICD-10","code":"H49.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C81.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2120278846"},{"source":"MONDO","code":"0020256","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680340","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":99664,"name":"OBSOLETE: Trochlear nerve palsy","status":"inactive"}],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519353,"name":"Rare trochlear nerve disorder","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[],"phenotypes":null}