{"orpha":99169,"name":"Epiblepharon","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare eyelid malposition disorder characterized by a horizontal fold consisting of redundant skin and underlying pretarsal orbicularis muscle overriding the eyelid margin and causing inward rotation of the eyelashes with potential irritation of the ocular surface. Patients may be asymptomatic or experience foreign body sensation, constant watering, itching, and redness of the eyes. Complications include repeated infections and corneal erosion. The condition is usually bilateral and more commonly affects the lower eyelids.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99169/","orphanet_url":"https://www.orpha.net/en/disease/detail/99169","names":{"fr":{"name":"Epiblépharon","definition":"Maladie rare de malposition de la paupière caractérisée par un bourrelet latéral orbiculo-cutané sousciliaire formé d'un excès de peau et une hypertrophie de la partie préseptale de la paupière à laquelle s'ajoute un défaut de la partie prétarsale, ce qui entraîne une verticalisation des cils des paupières inférieures venant au contact du globe, à l'origine de la sensation de corps étrangers, d'un larmoiement constant, des démangeaisons et d'une rougeur des yeux. Parmi les complications figurent des infections répétées et l'érosion de la cornée. La maladie est généralement bilatérale et touche plus souvent les paupières inférieures."},"de":{"name":"Epiblepharon","definition":"Eine seltene Lidfehlstellung, die durch eine horizontale Falte gekennzeichnet ist, die aus überschüssiger Haut und dem darunter liegenden Musculus orbicularis prätarsalis besteht, der über den Lidrand hinausragt und eine Einwärtsdrehung der Wimpern mit möglicher Reizung der Augenoberfläche verursacht. Die Patienten können asymptomatisch sein oder ein Fremdkörpergefühl, ständiges Tränen, Juckreiz und Rötung der Augen verspüren. Zu den Komplikationen gehören wiederholte Infektionen und Hornhauterosionen. Die Erkrankung tritt in der Regel beidseitig auf und betrifft eher die unteren Augenlider."},"es":{"name":"Epiblefaron","definition":"Es un trastorno poco frecuente de malposición palpebral caracterizado por un pliegue horizontal consistente en piel redundante y músculo orbicular pretarsal subyacente con cabalgamiento del borde del párpado que provoca la rotación de las pestañas hacia adentro con posible irritación de la superficie ocular. Los pacientes pueden permanecer asintomáticos o experimentar sensación de cuerpo extraño, lagrimeo constante, escozor y enrojecimiento de los ojos. Las complicaciones incluyen infecciones recurrentes y erosión corneal. La afección suele ser bilateral y afecta con mayor frecuencia a los párpados inferiores."},"it":{"name":"Epiblefaron","definition":"Si tratta di una malattia rara da malposizionamento della palpebra, caratterizzata da una plica orizzontale formata da cute ridondante e dal sottostante muscolo orbicolare pretarsale che sovrasta il margine della palpebra e che causa la rotazione verso l'interno delle ciglia, con la possibile irritazione della superficie oculare. I pazienti sono asintomatici oppure lamentano una sensazione di corpo estraneo, lacrimazione costante, prurito e arrossamento degli occhi. Le complicanze comprendono le infezioni ricorrenti e l'erosione della cornea. Di solito la malattia è bilaterale e colpisce maggiormente le palpebre inferiori."},"nl":{"name":"Epiblefaron","definition":"Een zeldzame aandoening van malpositie van ooglid, gekarakteriseerd door een horizontale plooi bestaande uit overtollige huid en onderliggende pretarsale oogkringspier die de rand van ooglid omzeilt en inwaartse rotatie van wimpers veroorzaakt, mogelijk met irritatie van oogoppervlak tot gevolg. Patiënten kunnen asymptomatisch zijn of gevoel van corpus alienum, constant waterig oog, jeuk, en roodheid van oog ervaren. Complicaties zijn onder meer herhaaldelijke infecties en erosie van cornea. De aandoening is doorgaans bilateraal en treft vaker onderste oogleden."},"pt":{"name":"Epiblefaron"},"pl":{"name":"Epiblefaron"},"cs":{"name":"Epiblefaron"},"uk":{"name":"Епіблефарон","definition":"A rare eyelid malposition disorder characterized by a horizontal fold consisting of redundant skin and underlying pretarsal orbicularis muscle overriding the eyelid margin and causing inward rotation of the eyelashes with potential irritation of the ocular surface. Patients may be asymptomatic or experience foreign body sensation, constant watering, itching, and redness of the eyes. Complications include repeated infections and corneal erosion. The condition is usually bilateral and more commonly affects the lower eyelids."},"zh":{"name":"眼睑赘皮","definition":"眼睑错位症一种罕见的眼睑错位疾病，其特征是水平褶皱，由多余的皮肤和位于眼睑边缘下面的睑前轮匝肌组成，覆盖眼睑边缘，导致睫毛向内旋转，可能会刺激眼表。患者可能无症状或有异物感、持续流泪、眼睛发痒发红，并发症包括反复感染和角膜侵蚀。这种情况通常是双侧受累，下眼睑更易受影响。"},"tr":{"name":"Epiblefaron"}},"xrefs":[{"source":"ICD-10","code":"Q10.3","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LA14.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1757021264"},{"source":"MONDO","code":"0020461","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0344503","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10056531","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98567,"name":"Rare eyelid malposition disorder","classifications":[147,189]},{"orpha":522528,"name":"Rare genetic eyelid malposition disorder","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}