{"orpha":91498,"name":"Familial congenital palsy of trochlear nerve","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, neuro-ophthalmological disease characterized by congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia, and progressive increase in vertical fusional vergence amplitudes with prolonged occlusion. Facial asymmetry (i.e. hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. Some asymptomatic cases have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91498/","orphanet_url":"https://www.orpha.net/en/disease/detail/91498","names":{"fr":{"name":"Paralysie congénitale familiale du nerf trochléaire","definition":"Maladie neuro-ophtalmologique génétique rare caractérisée par une paralysie congénitale du quatrième nerf crânien, qui se manifeste par une hypertropie du regard latéral, une inclinaison inexpliquée de la tête, une diplopie verticale acquise et une augmentation progressive de l'amplitude de la vergence fusionnelle verticale avec occlusion prolongée. L'asymétrie faciale (rétrusion hémifaciale, inclinaison de la bouche vers le haut du côté de l'inclinaison de la tête, énophtalmie légère de l'oeil parétique) et des anomalies du tendon de l'oblique supérieur (absence, redondance, mauvaise orientation) sont fréquemment associées. Quelques cas asymptomatiques ont été rapportés."},"de":{"name":"Trochlearislähmung, kongenitale, familiäre Form"},"es":{"name":"Parálisis congénita del nervio troclear, forma familiar","definition":"La parálisis congénita del nervio troclear, forma familiar, es una enfermedad neurooftalmológica, genética y poco frecuente, caracterizada por parálisis congénita del cuarto par craneal, que se manifiesta con hipertropía en la mirada lateral, inclinación inexplicable de la cabeza, diplopía vertical adquirida y aumento progresivo de la amplitud vertical de vergencia fusional con oclusión prolongada. Se asocian con frecuencia asimetría facial (es decir, retrusión hemifacial, inclinación de la boca hacia arriba en el lado de la inclinación de la cabeza, leve enoftalmía del ojo parético) y anomalías del tendón del oblicuo superior (tales como ausencia, redundancia, mala dirección). Se han notificado algunos casos asintomáticos."},"it":{"name":"Paralisi congenita del nervo trocleare, forma familiare","definition":"La paralisi congenita familiare del nervo trocleare è una malattia neuro-oftalmica genetica rara, caratterizzata dalla paralisi congenita del quarto nervo cranico, che esordisce con ipertropia nello sguardo laterale, inclinazione della testa apparentemente inspiegabile, diplopia verticale acquisita e aumento progressivo delle ampiezze di vergenza fusionale verticale con occlusione prolungata. Spesso si associa ad asimmetria del volto (retrusione emifacciale, bocca rivolta verso l'alto nel lato verso cui si inclina il capo, lieve enoftalmo dell'occhio paretico) ed anomalie del tendine obliquo superiore. Sono stati documentati alcuni pazienti asintomatici."},"nl":{"name":"Familiale congenitale paralyse van nervus trochlearis","definition":"Familiale congenitale paralyse van de trochleaire zenuw is een zeldzame, genetische, neuro-oftalmologische ziekte, en wordt gekarakteriseerd door congenitale vierde hersenzenuwverlamming die zich manifesteert met hypertropie in zijwaartse blik, onverklaarbare hoofdbuiging, verworven verticale diplopie, en progressieve toename van verticale fusionele vergentie-amplitudes met verlengde occlusie. Faciale asymmetrie (i.e. hemifaciale retrusie, naar boven hellende mond aan de kant van de hoofdbuiging, milde enoftalmie van het paretische oog) en afwijkingen van de pees van de musculus obliquus superior (bovenste schuine oogspier) (zoals afwezigheid, redundantie, verkeerde alignering) zijn frequent geassocieerd. Er werden enkele asymptomatische gevallen gerapporteerd."},"pt":{"name":"Paralisia do nervo troclear congénita familiar"},"pl":{"name":"Rodzinne wrodzone porażenie nerwu bloczkowego"},"cs":{"name":"Familiární vrozená obrna trochleárního nervu"},"uk":{"name":"Сімейний вроджений параліч блокового нерва","definition":"A rare, genetic, neuro-ophthalmological disease characterized by congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia, and progressive increase in vertical fusional vergence amplitudes with prolonged occlusion. Facial asymmetry (i.e. hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. Some asymptomatic cases have been reported."},"zh":{"name":"家族性先天性滑车神经麻痹","definition":"家族性先天性滑车神经麻痹是一种罕见的遗传性神经眼科疾病，其特征为先天性第四颅神经麻痹，表现为侧视时眼上斜视，原因不明的头倾斜，获得性垂直复视，垂直融合聚散幅度的进行性增加以及闭眼动作时间延长。患者常出现面部不对称（即脸半侧面部后缩，头部倾斜一侧的嘴角上斜，麻痹侧眼球轻度内陷）和上斜肌肌腱异常（例如缺如，重复，方向错误）。既往也有一些无症状病例被报道。"},"tr":{"name":"Troklear sinirin ailesel doğumsal felci"}},"xrefs":[{"source":"OMIM","code":"136480","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H49.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C81.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007626","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565007","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850996","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"3985833[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3985833[PMID]"}],"phenotypes":null}