{"orpha":1074,"name":"Ankyloblepharon filiforme adnatum-imperforate anus syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"historical","flags":[],"synonyms":["Aughton-Hufnagle syndrome"],"definition":"A rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1074/","orphanet_url":"https://www.orpha.net/en/disease/detail/1074","names":{"fr":{"name":"Syndrome d'ankyloblépharon filiforme-imperforation anale","synonyms":["Syndrome d'Aughton-Hufnagle"],"definition":"Anomalie rare du développement embryonnaire caractérisée par des bandes de tissu extensible reliant les bords des paupières supérieures et inférieures, en association avec une atrésie anale. Les patients peuvent également présenter une fente palatine, une hydrocéphalie et une méningomyélocèle. Aucun cas n'a été décrit dans la littérature depuis 1993."},"de":{"name":"Ankyloblepharon filiformis adnatum-Anus imperforatus-Syndrom","synonyms":["Aughton-Hufnagle-Syndrom"]},"es":{"name":"Síndrome de anquilobléfaron filiforme congénito-ano imperforado","synonyms":["Síndrome de Aughton-Hufnagle"],"definition":"Es un síndrome de malformaciones por defectos del desarrollo embrionario extremadamente infrecuente caracterizado por bandas de tejido extensible que conectan los márgenes de los párpados superiores e inferiores, en asociación con atresia anal. Los afectados también pueden presentar paladar hendido, hidrocefalia y meningomielocele. No se han descrito más casos en la literatura desde 1993."},"it":{"name":"Sindrome anchiloblefaron filiforme congenito e ano imperforato","synonyms":["Sindrome di Aughton-Hufnagle"],"definition":"La sindrome che associa l'anchiloblefaron filiforme congenito e l'ano imperforato è una malattia malformativa molto rara, causata da un difetto di sviluppo dell'embrione, caratterizzata dalla presenza di formazioni filiformi di tessuto elastico che collegano i margini della palpebra superiore e inferiore, associata ad atresia anale. I pazienti possono presentare anche palatoschisi, idrocefalo e meningomielocele. Non sono stati descritti nuovi casi dopo il 1993."},"nl":{"name":"Ankyloblepharon filiforme adnatum - anusatresie-syndroom","synonyms":["Syndroom van Aughton-Hufnagle"],"definition":"Een uiterst zeldzaam malformatiesyndroom met een ontwikkelingsdefect tijdens de embryogenese, gekarakteriseerd door banden van elastisch weefsel die de bovenste en onderste ooglidranden met elkaar verbinden, geassocieerd met anusatresie. Mogelijk vertonen patiënten bijkomend gespleten verhemelte, hydrocefalie en meningomyelocele. Sinds 1993 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de anquiloblefaro filiforme congénito-ânus imperforado"},"pl":{"name":"Wrodzony nitkowaty zrost brzegów powiek - niedrożność odbytu","synonyms":["Zespół Aughtona i Hufnagle'a"],"definition":"*Wrodzony nitkowaty zrost brzegów powiek - niedrożność odbytu to niezwykle rzadki zespół wad rozwojowych, powstały w okresie embriogenezy, który charakteryzuje się obecnością pasm rozciągliwej tkanki łączącej brzegi powieki górnej i dolnej oraz zarośnięciem odbytu. Dodatkowo obserwowano rozszczep podniebienia, wodogłowie i przepuklinę oponowo-rdzeniową. Od 1993 roku w literaturze nie ma nowych opisów."},"cs":{"name":"Syndrom zahrnující ankyloblefaron filiforme a atrézii anu","synonyms":["Aughtonův-Hufnagleho syndrom","Aughton-Hufnagleho syndrom"]},"uk":{"name":"Синдром ankyloblepharon filiforme adnatum (AFA) з неперфорованим анусом","synonyms":["Синдром Аутона-Хафнагла"],"definition":"A rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993."},"zh":{"name":"丝状睑缘粘连-肛门闭锁综合征","synonyms":["Aughton-Hufnagle综合征"]},"tr":{"name":"Ankiloblefaron filiforme adnatum-imperfore anüs sendromu","synonyms":["Aughton-Hufnagle sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0015201","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751231","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"697","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1071,"name":"Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome","classifications":[147,156,187,189,199,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"8135297[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8135297[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009755","label":"Ankyloblepharon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Occasional (29-5%)","criteria":null}]}}