{"orpha":519386,"name":"Isolated congenital entropion","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-519386/","orphanet_url":"https://www.orpha.net/en/disease/detail/519386","names":{"fr":{"name":"Entropion congénital isolé","definition":"Maladie rare de malposition de la paupière caractérisée par une inversion congénitale anormale de la paupière vers le globe oculaire, pouvant causer une irritation mécanique de la surface oculaire par les cils, pouvant conduire à une abrasion et une cicatrisation de la cornée et une déficience visuelle. Les premiers symptômes typiques sont une sensation de corps étranger, une rougeur, un larmoiement et un écoulement oculaire."},"de":{"name":"Isoliertes kongenitales Entropion","definition":"Eine seltene Fehlstellung der Augenlider, die durch eine angeborene abnorme Inversion des Augenlids zum Augapfel hin gekennzeichnet ist, was zu einer mechanischen Reizung der Augenoberfläche durch die Wimpern führen kann, was wiederum zu Hornhautabschürfungen und Narbenbildung mit Sehbehinderung führen kann. Typische Anfangssymptome sind Fremdkörpergefühl, Rötung, Tränenfluss und Augenausfluss."},"es":{"name":"Entropión congénito aislado","definition":"Es un trastorno poco frecuente de malposición palpebral caracterizado por inversión congénita del párpado hacia el globo ocular que puede causar irritación mecánica de la superficie ocular por las pestañas, que deriva en abrasión corneal y cicatrización con discapacidad visual. Los síntomas iniciales típicos son sensación de cuerpo extraño, enrojecimiento, lagrimeo y secreción ocular."},"it":{"name":"Entropion congenito isolato","definition":"Si tratta di un malposizionamento raro della palpebra, caratterizzato da un'inversione anomala congenita della palpebra verso il globo, che può causare un'irritazione meccanica della superficie dell'occhio da parte delle ciglia, che può esitare nell'abrasione della cornea e nella formazione di cicatrici con la conseguente compromissione della vista. Di solito i sintomi d'esordio comprendono la sensazione di corpo estraneo, l'arrossamento, la lacrimazione e la secrezione oculare."},"nl":{"name":"Geïsoleerd congenitaal entropion","definition":"Een zeldzame malpositie van ooglid, gekarakteriseerd door congenitale abnormale inversie van het ooglid naar de oogbol, wat potentieel mechanische irritatie van oogoppervlak door wimpers veroorzaakt, wat kan leiden tot abrasie en littekenvorming van cornea met verlies van gezichtsvermogen. Typische initiële symptomen zijn gevoel van corpus alienum, roodheid, tranende ogen, en oculaire afscheiding."},"pt":{"name":"Entropion congénito isolado"},"pl":{"name":"Izolowane wrodzone wywinięcie do wewnątrz (entropion) powieki"},"cs":{"name":"Izolované vrozené entropium"},"uk":{"name":"Ізольований вроджений ентропіон","definition":"A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge."},"zh":{"name":"孤立性先天性睑内翻"},"tr":{"name":"İzole doğumsal entropiyon"}},"xrefs":[{"source":"ICD-10","code":"Q10.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA14.02","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1290880184"},{"source":"MONDO","code":"0034971","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266579","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10014923","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519270,"name":"Rare disorder with entropion","classifications":[147,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}