{"orpha":231013,"name":"Congenital trigeminal anesthesia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231013/","orphanet_url":"https://www.orpha.net/en/disease/detail/231013","names":{"fr":{"name":"Anesthésie congénitale du nerf trijumeau","definition":"L'anesthésie congénitale du nerf trijumeau est un trouble neuro-ophtalmique rare caractérisé par un déficit sensoriel congénital impliquant l'ensemble ou une partie des composants sensoriels du nerf trijumeau. Du fait de l'anesthésie de la cornée, elle se manifeste généralement par des infections oculaires récurrentes indolores, des opacités cornéennes indolores et/ou des lésions ulcérées cicatrisant peu, localisées sur la peau et les muqueuses du visage (habituellement la muqueuse orale et/ou le septum nasal)."},"de":{"name":"Trigeminusanästhesie, kongenitale","synonyms":["Kongenitale trigeminale Anästhesie"],"definition":"Die kongenitale Trigeminusanästhesie ist eine seltene neuro-ophtalmologische Störung, die durch ein kongenitales sensorisches Defizit gekennzeichnet ist, das alle oder einige der sensorischen Komponenten des Trigeminusnervs betrifft. Aufgrund der Hornhautanästhesie präsentiert sie sich in der Regel mit rezidivierenden, schmerzlosen Augeninfektionen, schmerzlosen Hornhauttrübungen und/oder schlecht heilenden, ulzerierten Wunden an der Gesichtshaut und -schleimhaut (typischerweise der Wangenschleimhaut und/oder der Nasenscheidewand)."},"es":{"name":"Anestesia congénita del nervio trigémino","definition":"La anestesia trigeminal congénita es un trastorno neuro-oftalmológico poco frecuente caracterizado por una deficiencia sensorial congénita que afecta a todos o a algunos de los componentes sensoriales del nervio trigémino. Debido a la anestesia corneal, por lo general se presenta con infecciones oculares indoloras recurrentes, opacidades corneales indoloras y/o lesiones ulcerosas de pobre curación en la piel del rostro y mucosas (por lo general, en la mucosa bucal y/o el septo nasal)."},"it":{"name":"Anestesia congenita del nervo trigemino","definition":"L'anestesia congenita del nervo trigemino è una malattia neuro-oftalmica rara, caratterizzata da deficit sensoriale congenito di alcuni o di tutti i componenti sensoriali del nervo trigemino. A causa dell'anestesia della cornea, di solito esordisce con infezioni oculari indolori ricorrenti, opacità corneali indolori e/o a guarigione lenta, e lesioni ulcerate sulla cute e sulle mucose facciali (in particolare della bocca e/o del setto nasale)."},"nl":{"name":"Congenitale anesthesie van nervus trigeminus","synonyms":["Aangeboren gevoelloosheid van drielingzenuw"],"definition":"Congenitale trigeminus-anesthesie is een zeldzame neuro-oftalmologische stoornis die wordt gekarakteriseerd door een sensorisch deficit waarbij alle of sommige sensorische componenten van de nervus trigeminus (drielingzenuw) betrokken zijn. Vanwege corneale anesthesie komt de ziekte doorgaans voor met terugkerende, pijnloze ooginfecties, pijnloze corneale troebelheid en/of slecht helende, zwerende wonden op de huid en het slijmvlies van het gelaat (typisch het wangslijmvlies en/of het neustussenschot)."},"pt":{"name":"Anestesia trigeminal congénita"},"pl":{"name":"Wrodzone znieczulenie nerwu trójdzielnego"},"cs":{"name":"Vrozená trigeminová anestezie"},"uk":{"name":"Вроджена анестезія трійчастого нерва","definition":"Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum)."},"zh":{"name":"先天性三叉神经麻痹","definition":"先天性三叉神经麻痹是一种罕见的神经眼科疾病，其特征是三叉神经全部或部分感觉成分的先天性感觉缺失。由于角膜感觉缺失，常表现为复发性无痛性眼部感染、无痛性角膜混浊和/或愈合不良、面部皮肤和粘膜（通常是颊粘膜和/或鼻中隔）溃疡。"},"tr":{"name":"Doğumsal trigeminal anestezi"}},"xrefs":[{"source":"OMIM","code":"122450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G50.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007384","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536440","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1852541","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10034","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10088099","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98497,"name":"Genetic peripheral neuropathy","classifications":[156,181]},{"orpha":522510,"name":"Rare genetic ophthalmic disorder with cranial nerve involvement","classifications":[156]},{"orpha":519349,"name":"Rare ophthalmic disorder with cranial nerve involvement","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"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}