{"orpha":1072,"name":"Ankyloblepharon filiforme adnatum-cleft palate syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1072/","orphanet_url":"https://www.orpha.net/en/disease/detail/1072","names":{"fr":{"name":"Syndrome d'ankyloblépharon filiforme-fente palatine","definition":"Anomalie rare, syndromique, du développement de l'oeil caractérisée par des bandes filiformes unilatérales ou bilatérales, simples ou multiples, de tissu conjonctif qui tapissent le bord des paupières le long de la ligne grise, associée à une fente labiale et palatine. L'examen des yeux est par ailleurs normal."},"de":{"name":"Ankyloblepharon filiformis-Gaumenspalte-Syndrom"},"es":{"name":"Síndrome de anquilobléfaron filiforme adnatum-paladar hendido","synonyms":["Anquilobléfaron filiforme adnatum"],"definition":"Es una malformación por defecto del desarrollo ocular, sindrómica y poco frecuente, caracterizada por bandas filiformes uni- o bilaterales, simples o múltiples, de tejido elástico que conectan los bordes del párpado con la línea gris, asociada con labio leporino y paladar hendido. Por lo demás, el examen ocular es normal."},"it":{"name":"Sindrome da anchiloblepharon filiforme congenito e palatoschisi","definition":"La sindrome che associa l'anchiloblepharon filiforme congenito e la palatoschisi è un difetto sindromico raro dello sviluppo dell'occhio, caratterizzato da strisce filiformi di tessuto elastico, mono- o bilaterali, singole o multiple, che collegano i margini della palpebra alla linea grigia, associate a labio- e palato-schisi. All'esame oculistico non si evidenziano altre anomalie."},"nl":{"name":"Ankyloblepharon filiforme adnatum - gespleten verhemelte-syndroom","definition":"Een zeldzame, syndromale malformatie en ontwikkelingsdefect van het oog, gekarakteriseerd door unilaterale of bilaterale, enkel- of meervoudige, filiforme banden van elastisch weefsel die de ooglidranden verbinden ter hoogte van de grijze lijn, geassocieerd met gespleten lip en verhemelte. Voor het overige zijn de resultaten van oogonderzoek normaal."},"pt":{"name":"Síndrome de anquiloblefaro filiforme congénito-fenda palatina"},"pl":{"name":"Wrodzony nitkowaty zrost brzegów powiek - rozszczep podniebienia","definition":"*Wrodzony nitkowaty zrost brzegów powiek - rozszczep podniebienia jest rzadką, syndromiczną wadą rozwojową oka, która charakteryzuje się obecnością jednostronnych lub obustronnych pojedynczych lub mnogich nitkowatych elastycznych pasm tkanki łącznej, które łączą brzegi powieki wzdłuż linii szarej, z towarzyszącym rozszczepem wargi i podniebienia. W badaniu oczu nie stwierdza się żadnych nieprawidłowości.inf brsup"},"cs":{"name":"Syndrom zahrnující ankyloblefaron filiforme adnatum a rozštěp patra"},"uk":{"name":"Синдром ankyloblepharon filiforme adnatum (AFA) та розщілини піднебіння","definition":"A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal."},"zh":{"name":"丝状睑缘粘连-腭裂综合征"},"tr":{"name":"Ankiloblefaron filiforme adnatum-yarık damak sendromu"}},"xrefs":[{"source":"OMIM","code":"106250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"971060057"},{"source":"MONDO","code":"0007123","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862866","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"696","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":[{"symbol":"TP63","name":"tumor protein p63","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32953416[PMID]","hgnc":"15979","ensembl":"ENSG00000073282","omim":"603273","loci":["3q28"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"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:0009775","label":"Amniotic constriction ring","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100267","label":"Lip pit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Occasional (29-5%)","criteria":null}]}}