{"orpha":98946,"name":"Coloboma of eyelid","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral, symmetrical or asymmetrical, partial or full thickness defect of the superior or inferior eyelid margin, ranging in size from a small notch to complete absence of the entire lid, typically located on the medial to lateral third of the eyelid, resulting in an unprotected cornea and thus possibly leading to exposure keratopathy and vision impairment. It may occur isolated, be associated with other ocular defects or be part of a craniofacial syndrome, such as Treacher-Collins or Goldenhar syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98946/","orphanet_url":"https://www.orpha.net/en/disease/detail/98946","names":{"fr":{"name":"Colobome de la paupière","definition":"Anomalie rare du développement de l'oeil, d'origine génétique, caractérisée par un défaut de pleine épaisseur ou d'épaisseur partielle, symétrique ou asymétrique, unilatéral ou bilatéral du bord de la paupière inférieure ou supérieure, dont la taille varie d'une petite encoche à l'absence complète de la paupière. L'anomalie siège généralement entre le tiers moyen et latéral de la paupière, laissant la cornée à nu et pouvant entraîner une kératite d'exposition et une déficience visuelle. Le colobome peut être isolé, associé à d'autres troubles oculaires ou faire partie d'un syndrome craniofacial, tel que le syndrome de Treacher-Collins ou de Goldenhar."},"de":{"name":"Lidkolobom","synonyms":["Augenlidkolobom"],"definition":"Ein seltener, genetisch bedingter Entwicklungsdefekt des Auges, der durch einen ein- oder beidseitigen, symmetrischen oder asymmetrischen, teilweisen oder vollständigen Defekt des oberen oder unteren Lidrandes gekennzeichnet ist, der in seiner Größe von einer kleinen Kerbe bis zum vollständigen Fehlen des gesamten Lids reicht und sich typischerweise im medialen bis lateralen Drittel des Augenlids befindet. Sie kann isoliert auftreten, mit anderen okulären Defekten einhergehen oder Teil eines kraniofazialen Syndroms wie dem Treacher-Collins- oder Goldenhar-Syndrom sein."},"es":{"name":"Coloboma de párpado","definition":"Es un defecto del desarrollo ocular de origen genético y poco frecuente caracterizado por un defecto uni- o bilateral, simétrico o asimétrico, de espesor parcial o total, del margen palpebral superior o inferior, que varía en tamaño desde una pequeña hendidura hasta la ausencia completa del párpado. Por lo general, se localiza entre el tercio medio y lateral del párpado, quedando la córnea desprotegida, lo que resulta probablemente, en una queratopatía por exposición y disfunción visual. El defecto puede presentarse aislado, estar asociado a otros defectos oculares o formando parte de un síndrome craneofacial, tales como el síndrome de Treacher-Collins o el de Goldenhar."},"it":{"name":"Coloboma della palpebra","definition":"È un difetto genetico raro dello sviluppo dell'occhio, caratterizzato da un'anomalia mono- o bilaterale, simmetrica o asimmetrica, che interessa una sola parte o tutto lo spessore del margine della palpebra superiore o inferiore, con dimensioni variabili da una piccola fenditura all'agenesia completa della palpebra. La sua localizzazione, di solito il terzo medio o laterale della palpebra, lascia la cornea non protetta, con conseguente cheratopatia da esposizione e compromissione della vista. Il difetto può essere isolato, può associarsi ad altri difetti dell'occhio, oppure rientrare nel quadro di una sindrome craniofacciale, come la sindrome di Treacher-Collins o di Goldenhar."},"nl":{"name":"Coloboom van ooglid","definition":"Een zeldzaam, genetisch ontwikkelingsdefect van het oog, gekarakteriseerd door een uni- of bilateraal, symmetrisch of asymmetrisch defect over een deel of de volledige dikte van de rand van het bovenste of onderste ooglid, met een omvang gaande van een kleine inkeping tot volledige afwezigheid van het hele ooglid en doorgaans gesitueerd op het middelste tot laterale derde deel van het ooglid, met als resultaat een onbeschermd hoornvlies, wat mogelijk leidt tot blootstellingskeratopathie en functieverlies van het zicht. Het kan geïsoleerd voorkomen, geassocieerd zijn met andere oculaire defecten of onderdeel zijn van een craniofaciaal syndroom zoals syndroom van Treacher-Collins of syndroom van Goldenhar."},"pt":{"name":"Coloboma da pálpebra"},"pl":{"name":"Szczelina powieki"},"cs":{"name":"Kolobom víčka"},"uk":{"name":"Колобома повіки","definition":"A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral, symmetrical or asymmetrical, partial or full thickness defect of the superior or inferior eyelid margin, ranging in size from a small notch to complete absence of the entire lid, typically located on the medial to lateral third of the eyelid, resulting in an unprotected cornea and thus possibly leading to exposure keratopathy and vision impairment. It may occur isolated, be associated with other ocular defects or be part of a craniofacial syndrome, such as Treacher-Collins or Goldenhar syndrome."},"zh":{"name":"眼睑缺损","definition":"该病是一种罕见的遗传性眼睛发育缺陷，其特征是上眼睑或下眼睑边缘出现单侧或双侧、对称或不对称、部分或全层的缺陷，大小从一个小缺口到整个眼睑完全缺失，通常位于眼睑内侧至外侧三分之一处，导致角膜无保护，从而可能导致裸露角膜病变和视力障碍。它可能是孤立性的，与其他眼缺损相关，也可能是颅面综合征的一部分，如Treacher-Collins综合征或Goldenhar综合征。"},"tr":{"name":"Göz kapağı kolobomu"}},"xrefs":[{"source":"OMIM","code":"620731","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q10.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA14.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"684436925"},{"source":"MONDO","code":"0020357","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0521573","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98564,"name":"Eyelid border anomaly","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"FZD5","name":"frizzled class receptor 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"26908622[PMID]","hgnc":"4043","ensembl":"ENSG00000163251","omim":"601723","loci":["2q33.3"]},{"symbol":"SALL2","name":"spalt like transcription factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24412933[PMID]","hgnc":"10526","ensembl":"ENSG00000165821","omim":"602219","loci":["14q11.2"]},{"symbol":"ABCB6","name":"ATP binding cassette subfamily B member 6 (LAN blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22226084[PMID]","hgnc":"47","ensembl":"ENSG00000115657","omim":"605452","loci":["2q35"]},{"symbol":"PAX6","name":"paired box 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12721955[PMID]_16604056[PMID]","hgnc":"8620","ensembl":"ENSG00000007372","omim":"607108","loci":["11p13"]}],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}