{"orpha":99172,"name":"Euryblepharon","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99172/","orphanet_url":"https://www.orpha.net/en/disease/detail/99172","names":{"fr":{"name":"Euryblépharon","definition":"Maladie congénitale rare de la paupière, d'étiologie inconnue, caractérisée par un élargissement horizontal bilatéral de la fente palpébrale et par un raccourcissement vertical de la paupière, une malposition du canthus latéral et un ectropion latéral. Elle peut être isolée ou associée à d'autres anomalies oculaires (par exemple, strabisme ou télécanthus) ou systémiques (par exemple, syndrome blépharo-cheilo-odontique). Dans les cas graves, elle peut entraîner une lagophtalmie et une kératite d'exposition, nécessitant un traitement chirurgical."},"de":{"name":"Euryblepharon","definition":"Ein Epiblepharon ist eine seltene kongenitale Augenlidanomalie unbekannter Ätiologie, die durch die beidseitige horizontale Vergrößerung der Lidspalte mit vertikal verkürzten Augenlidern, lateralen Canthusfehlstellungen und lateralem Ektropium gekennzeichnet ist. Es kann isoliert oder mit anderen Augenanomalien (z.B. Strabismus oder Telecanthus; s. dort) oder systemischen Anomalien (z.B. Blepharo-cheilo-dentale Syndrom, s. dort) assoziiert sein. In schweren Fällen kann es zu einem Lagophthalmus und einer Expositionskeratopathie führen, die eine chirurgische Behandlung erfordern."},"es":{"name":"Euriblefaron","definition":"Es una anomalía congénita del párpado muy poco frecuente de etiología desconocida. Se caracteriza por un alargamiento horizontal bilateral de la fisura palpebral con un acortamiento vertical del párpado, malposición del canto lateral y ectropión lateral. Puede presentarse aislada o asociada a anomalías oculares (p. ej. estrabismo o telecanto) o sistémicas (p. ej. síndrome blefaro-queilo-odóntico). En casos graves, puede dar lugar a lagoftalmos y queratopatía por exposición, siendo necesaria una intervención quirúrgica."},"it":{"name":"Euriblefaron","definition":"L'euriblefaron è un'anomalia congenita rara della palpebra, ad eziologia sconosciuta, caratterizzata da un accrescimento orizzontale bilaterale della rima palpebrale, associato ad accorciamento verticale delle palpebre, malposizionamento del canto laterale ed ectropion laterale. Può essere isolato o associarsi ad altre anomalie degli occhi (strabismo o telecanto; si veda questo termine) o sistemiche (sindrome blefaro-cheilo-dentale; si veda questo termine). Nei casi gravi, può esitare nel lagoftalmo e nella cheratopatia da esposizione, che richiedono di essere trattati chirurgicamente."},"nl":{"name":"Euryblefaron","definition":"Euryblefaron is een zeldzame congenitale anomalie van het ooglid met een ongekende etiologie en wordt gekarakteriseerd door bilaterale horizontale vergroting van de ooglidspleet met verticaal verkorte oogleden, malpositionering van de laterale canthus, en laterale ectropion. De anomalie kan geïsoleerd voorkomen of geassocieerd zijn met andere oculaire (e.g. strabisme of telecanthus; zie deze term) of systemische (e.g. blefaro-cheilo-odontisch syndroom; zie deze term) anomalieën. In ernstige gevallen kan deze conditie leiden tot lagoftalmie en keratopathie door blootstelling, waarbij chirurgische behandeling vereist is."},"pt":{"name":"Euriblefaron"},"pl":{"name":"Euryblefaron - poszerzenie szpary powiekowej"},"cs":{"name":"Euryblefaron"},"uk":{"name":"Евриблефарон","definition":"Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus; see this term) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome, see this term). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment."},"zh":{"name":"睑裂过宽","definition":"上睑畸形是一种罕见的原因不明的先天性眼睑畸形，以双侧睑裂水平扩大、眼睑垂直距离缩短、外侧眼角错位和外侧外翻为特征。它可能是孤立的或与其他眼部畸形(如斜视或远视，见术语)或全身性异常(如眼睑-唇齿综合征，见术语)有关。在严重情况下，它可能会导致兔眼和暴露性角膜病变，需要手术治疗。"},"tr":{"name":"Öriblefaron"}},"xrefs":[{"source":"ICD-10","code":"Q10.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA14.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2086603843"},{"source":"MONDO","code":"0020464","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1303001","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":["Unknown"],"onset":["Neonatal"],"prevalence":[],"phenotypes":null}