{"orpha":91397,"name":"Isolated ankyloblepharon filiforme adnatum","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91397/","orphanet_url":"https://www.orpha.net/en/disease/detail/91397","names":{"fr":{"name":"Ankyloblépharon filiforme adnatum isolé","definition":"L'ankyloblépharon filiforme <i>ad natum</i> isolé est caractérisé par la présence d'une ou de plusieurs fines bandes de tissu conjonctif reliant la paupière supérieure et inférieure, et empêchant l'ouverture complète des yeux. La prévalence est inconnue. Cette anomalie peut se produire de manière sporadique ou suivre une transmission autosomique dominante. Dans certains cas, elle est associée à d'autres affections, comme la trisomie 18. La section des bandes aux ciseaux se pratique facilement dans la période néonatale et évite le développement d'une amblyopie."},"de":{"name":"Ankyloblepharon filiforme adnatum, isoliertes","definition":"Das Isolierte Ankyloblepharon filiforme adnatum (AFA) ist gekennzeichnet durch einzelne oder multiple Bindegewebsbänder zwischen Ober- und Unterlid. Das Auge kann dann nicht vollständig geöffnet werden."},"es":{"name":"Anquilobléfaron filiforme ad natum aislado","definition":"Es un trastorno caracterizado por la presencia de bandas delgadas únicas o múltiples de tejido conectivo entre los párpados superior e inferior que impiden la apertura completa del ojo. Se han descrito varios casos en la literatura científica. Puede ocurrir de forma esporádica o siguiendo un patrón de transmisión autosómico dominante. En algunos casos, el AFA puede estar asociado a otros trastornos, como la trisomía 18. Las bandas deben retirarse para evitar la ambliopía y esto se puede realizar fácilmente en el período neonatal."},"it":{"name":"Anchiloblefaron filiforme congenito isolato"},"nl":{"name":"Geïsoleerde ankyloblepharon filiforme adnatum","definition":"Geïsoleerde ankyloblepharon filiforme adnatum (AFA) wordt gekenmerkt door de aanwezigheid van een of meerdere dunne banden van bindweefsel tussen bovenste en onderste ooglid, die volledige opening van oog verhinderen. Er werden meerdere gevallen gerapporteerd. Het kan sporadisch optreden, of een autosomaal dominant overervingspatroon volgen. In sommige gevallen kan AFA geassocieerd zijn met andere aandoeningen, zoals trisomie 18. De banden dienen verwijderd te worden om amblyopie te vermijden, en dit kan makkelijk gebeuren in de neonatale periode door snijden met een weefselschaar."},"pt":{"name":"Anquiloblefaron filiforme adnatum isolado"},"pl":{"name":"Izolowany ankyloblepharon filiforme adnatum"},"cs":{"name":"Izolovaný adnátní filiformní ankyloblefaron"},"uk":{"name":"Ізольований анкілоблефарон filiforme adnatum","definition":"Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors."},"zh":{"name":"孤立型丝状睑缘粘连"},"tr":{"name":"İzole ankyloblepharon filiforme adnatum"}},"xrefs":[{"source":"ICD-10","code":"Q10.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA14.07","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1002292151"},{"source":"MONDO","code":"0019626","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536373","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1302999","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]},{"orpha":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}