{"orpha":155889,"name":"Coloboma of inferior eyelid","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Inferior palpebral coloboma"],"definition":"Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-155889/","orphanet_url":"https://www.orpha.net/en/disease/detail/155889","names":{"fr":{"name":"Colobome de la paupière inférieure","synonyms":["Colobome palpébral inférieur"],"definition":"Le colobome de la paupière inférieure est un trouble rare du développement au cours de la l'embryogenèse. Il se caractérise par une malformation de la paupière inférieure, de taille variable (allant d'une petite fente, à l'absence complète de toute la paupière). Il peut être partiel ou complet, unilatéral ou bilatéral. Il est généralement de forme triangulaire (la base se trouvant au niveau de la bordure de la paupière), et situé dans le tiers latéral de celle-ci. Il peut être isolé, associé à une fente faciale, ou faire partie d'un syndrome."},"de":{"name":"Kolobom des Unterlides","synonyms":["Lidkolobom, inferior"],"definition":"Das Kolobom des Unterlids ist ein seltener Entwicklungsdefekt während der Embryogenese, der durch einen ein- oder beidseitigen, partiellen oder vollflächigen, unterschiedlich großen Defekt des Unterlids gekennzeichnet ist (von einer kleinen Kerbe bis zum vollständigen Fehlen des gesamten Lids), der in der Regel eine dreieckige Form hat (mit Basis am Lidrand) und im seitlichen Drittel des Lids liegt. Er kann isoliert, in Verbindung mit einer Gesichtsspalte oder als Teil eines Syndroms auftreten."},"es":{"name":"Coloboma del párpado inferior","synonyms":["Coloboma palpebral inferior"],"definition":"El coloboma del párpado inferior es un defecto poco frecuente del desarrollo durante la embriogénesis caracterizado por un defecto unilateral o bilateral, de espesor parcial o total y de tamaño variable del párpado inferior (variando desde una pequeña hendidura a la ausencia completa del párpado) que por lo general, es de forma triangular (con base en el margen del párpado) y localizado en el tercio lateral del párpado. Puede presentarse aislado, asociado con hendidura facial o formando parte de un síndrome."},"it":{"name":"Coloboma della palpebra inferiore","synonyms":["Coloboma palpebrale inferiore"],"definition":"Il coloboma della palpebra inferiore è un difetto raro dello sviluppo dell'embrione, caratterizzato da un difetto della palpebra inferiore mono- o bilaterale, di dimensioni variabili, che interessa una parte o a tutto spessore la palpebra, con espressione variabile tra una fissurazione fino all'agenesia completa della palpebra; di solito ha la forma di un triangolo la cui base è rappresentata dal margine della palpebra; in genere il difetto si localizza nel terzo laterale della palpebra. Il coloboma può essere isolato, oppure associarsi a schisi facciali o fare parte di una sindrome."},"nl":{"name":"Coloboom van onderste ooglid","synonyms":["Inferieur palpebraal coloboom"],"definition":"Coloboom van het onderste ooglid is een zeldzaam ontwikkelingsdefect tijdens de embryogenese en wordt gekarakteriseerd door een unilateraal of bilateraal defect van het onderste ooglid, dat een gedeeltelijke of volledige dikte en een variabele omvang heeft (gaande van een kleine inkeping tot volledige afwezigheid van het hele ooglid), dat meestal een driehoekige vorm heeft (met de basis aan de rand van het ooglid), en zich doorgaans situeert op het laterale derde deel van het ooglid. Het kan geïsoleerd voorkomen, geassocieerd met gezichtsspleten, of als onderdeel van een syndroom."},"pt":{"name":"Coloboma da pálpebra inferior"},"pl":{"name":"Szczelina dolnej powieki","synonyms":["Szczelina dolnej powieki"]},"cs":{"name":"Kolobom dolního očního víčka","synonyms":["Dolní palpebrální kolobom","Coloboma palpebrae inferior"]},"uk":{"name":"Колобома нижньої повіки","synonyms":["Нижня пальпебральна колобома"],"definition":"Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome."},"zh":{"name":"下眼睑缺损","synonyms":["下睑缺损"],"definition":"下眼睑缺损是一种罕见的胚胎发育缺陷，其特征是单侧或双侧、部分或全层且大小不等的下眼睑缺损（从一个小切口到眼睑完全缺失不等），通常呈三角形（基底部在眼睑边缘），位于眼睑外侧三分之一处。可单独发生，或伴面裂，或作为综合征的一部分。"},"tr":{"name":"Alt göz kapağı koloboması","synonyms":["İnferior palpebral kolobom"]}},"xrefs":[{"source":"ICD-10","code":"Q10.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015481","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1837826","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":141253,"name":"Oblique facial cleft","classifications":[147,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}