{"orpha":99171,"name":"Isolated congenital ectropion","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Isolated congenital ectropion is a rare ocular disease characterized by congenital, unilateral or bilateral, lower or upper eyelid malposition with eversion of the margin due to a vertical shortage of skin, leading to exposure of the conjunctiva and sometimes the cornea. Chronic epiphora and exposure keratitis may be observed in severe cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99171/","orphanet_url":"https://www.orpha.net/en/disease/detail/99171","names":{"fr":{"name":"Ectropion congénital isolé","definition":"Maladie oculaire rare caractérisée par une malposition congénitale, unilatérale ou bilatérale, des paupières inférieures ou supérieures avec éversion du bord due à un raccourcissement vertical du tissu cutané, entraînant l'exposition de la conjonctive et parfois de la cornée. Dans les cas graves, on peut observer un épiphora chronique et une kératite d'exposition."},"de":{"name":"Ektropion, isoliertes kongenitales"},"es":{"name":"Ectropión congénito aislado","definition":"El ectropión congénito aislado es una enfermedad ocular poco frecuente caracterizada por malposición congénita, uni- o bilateral, del párpado inferior o superior con eversión del margen debido a una escasez de piel, que conduce a la exposición de la conjuntiva y, en ocasiones, de la córnea. En casos graves se puede observar epífora crónica y queratitis por exposición."},"it":{"name":"Ectropion congenito isolato","definition":"L'ectropion congenito isolato è una malattia oculare rara, caratterizzata dal malposizionamento congenito mono- o bi-laterale della palpebra inferiore o superiore, con eversione del margine, secondaria alla riduzione in senso verticale della cute, con conseguente esposizione della congiuntiva e, occasionalmente, della cornea. Nei casi più gravi, i pazienti presentano epifora cronica e cheratite da esposizione."},"nl":{"name":"Geïsoleerd congenitaal ectropion","definition":"Geïsoleerd congenitaal ectropion is een zeldzame oogziekte die gekarakteriseerd wordt congenitale, unilaterale of bilaterale malpositie van het onderste of bovenste ooglid met eversie van de rand door een verticaal tekort aan huid, wat leidt tot blootstelling van het bindvlies en soms het hoornvlies. In ernstige gevallen kunnen chronische epifora en blootstellingskeratitis waargenomen worden."},"pt":{"name":"Ectropion congénito isolado"},"pl":{"name":"Izolowany wrodzony ektropion"},"cs":{"name":"Izolované vrozené ektropium"},"uk":{"name":"Ізольований вроджений ектропіон","definition":"Isolated congenital ectropion is a rare ocular disease characterized by congenital, unilateral or bilateral, lower or upper eyelid malposition with eversion of the margin due to a vertical shortage of skin, leading to exposure of the conjunctiva and sometimes the cornea. Chronic epiphora and exposure keratitis may be observed in severe cases."},"zh":{"name":"孤立型先天性眼睑外翻","definition":"孤立性先天性睑外翻是一种罕见的眼部疾病，其特征是先天性、单侧或双侧、下睑或上睑错位，由于皮肤垂直长度不足而导致边缘外翻，并使结膜和角膜外露。严重者可出现慢性溢泪和暴露性角膜炎。"},"tr":{"name":"İzole doğumsal ektropiyon"}},"xrefs":[{"source":"ICD-10","code":"Q10.1","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA14.03","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"MONDO","code":"0020463","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681630","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98570,"name":"Congenital ectropion","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}