{"orpha":99176,"name":"Congenital eyelid retraction","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99176/","orphanet_url":"https://www.orpha.net/en/disease/detail/99176","names":{"fr":{"name":"Rétraction congénitale des paupières","definition":"La rétraction congénitale des paupières est une anomalie de la cinétique palpébrale très rare qui se manifeste dès la naissance et peut toucher la paupière supérieure ou inférieure. Dans certains cas, elle peut causer une exposition cornéenne et être associée à des glissements du muscle releveur accessoire."},"de":{"name":"Augenlidretraktion, kongenitale","definition":"Die angeborene Lidretraktion ist eine sehr seltene Bewegungsanomalie des Augenlids, die das obere oder das untere Lid betreffen kann. Sie manifestiert sich bei der Geburt, kann in eingen Fällen zum Freiliegen der Cornea führen und mit Abrutschen des Lidhebermuskels assoziiert sein."},"es":{"name":"Retracción palpebral congénita","definition":"La retracción palpebral congénita es una anomalía cinética muy rara de los párpados presente al nacer. Afecta al párpado superior o al inferior provocando, en algunos casos, la exposición de la córnea y puede estar asociada al deslizamiento del músculo elevador."},"it":{"name":"Retrazione palpebrale congenita","definition":"La retrazione palpebrale congenita è un'anomalia rara della cinetica palpebrale, che può interessare la palpebra superiore o inferiore, che è presente alla nascita. In alcuni casi, può portare all'esposizione della cornea. Può associarsi al disallineamento del muscolo elevatore."},"nl":{"name":"Congenitale ooglidretractie","definition":"Congenitale ooglidretractie is een zeer zeldzame kinetische anomalie van het ooglid die het bovenste of het onderste ooglid kan treffen, die aanwezig is bij de geboorte, die in sommige gevallen kan resulteren in blootstelling van het hoornvlies, en die kan geassocieerd zijn met dislocatie van de levatorspier."},"pt":{"name":"Retração congénita da pálpebra"},"pl":{"name":"Wrodzona retrakcja powiek"},"cs":{"name":"Vrozená retrakce očních víček"},"uk":{"name":"Вроджене втягування повік","definition":"Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips."},"zh":{"name":"先天性眼睑回缩","definition":"先天性眼睑退缩是一种非常罕见的眼睑运动异常，可影响上或下眼睑，在出生时出现，在某些情况下可导致角膜暴露，并可能与副上睑提肌滑脱有关。"},"tr":{"name":"Doğumsal göz kapağı retraksiyonu"}},"xrefs":[{"source":"ICD-10","code":"Q10.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA14.05","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"11235593"},{"source":"MONDO","code":"0020465","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274470","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98561,"name":"Congenital malformation of the eyelid","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}