{"orpha":1071,"name":"Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["AEC syndrome","Hay-Wells syndrome"],"definition":"An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1071/","orphanet_url":"https://www.orpha.net/en/disease/detail/1071","names":{"fr":{"name":"Syndrome d'ankyloblépharon-anomalies ectodermiques-fente labiopalatine","synonyms":["Syndrome AEC","Syndrome de Hay-Wells"],"definition":"Dysplasie ectodermique associant les caractéristiques de l'ankyloblépharon filiforme adnatum (AFA), des anomalies ectodermiques et une fente labiale et/ou palatine."},"de":{"name":"Ankyloblepharon-ektodermale Defekte-Lippen-Kiefer-Gaumenspalte-Syndrom","synonyms":["AEC-Syndrom","Hay-Wells-Syndrom"],"definition":"Ein seltenes Syndrom aus der Gruppe der ektodermalen Dysplasien, das gekennzeichnet ist durch das kombinierte Auftreten eines Ankyloblepharon filiforme adnatum (AFA) mit ektodermalen Anomalien und Lippen- und/oder Gaumenspalte."},"es":{"name":"Síndrome de anquilobléfaron-displasia ectodérmica-fisura labiopalatina","synonyms":["Síndrome de Hay-Wells"],"definition":"Es una displasia ectodérmica con características definitorias de anquilobléfaron filiforme congénito (AFC), anomalías ectodérmicas y labio leporino y/o fisura palatina."},"it":{"name":"Sindrome da anchiloblefaron, difetti ectodermici e labio/palatoschisi","synonyms":["Sindrome AEC","Sindrome di Hay-Wells"],"definition":"La sindrome che associa l'anchiloblefaron, i difetti ectodermici e la labio/palatoschisi (sindrome AEC) è una displasia ectodermica caratterizzata da anchiloblefaron filiforme congenito (AFA), anomalie ectodermiche e labioschisi e/o palatoschisi."},"nl":{"name":"Ankyloblefaron - ectodermale defecten - gespleten lip/verhemelte-syndroom","synonyms":["AEC-syndroom","Syndroom van Hay-Wells"],"definition":"Een ectodermale dysplasiesyndroom met ankyloblepharon filiforme adnatum (AFA), ectodermale afwijkingen en een gespleten lip en/of verhemelte als bepalende kenmerken."},"pt":{"name":"Síndrome de anquiloblefaro-defeitos ectodérmicos-fenda lábio-palatina","synonyms":["Síndrome AEC","Síndrome Hay-Wells"]},"pl":{"name":"Zarośnięcie brzegów powiek - zaburzenia ektodermalne - rozszczep wargi/podniebienia","synonyms":["Zespół AEC","Zespół Haya i Wellsa"]},"cs":{"name":"Syndrom zahrnující ankyloblefaron, ektodermální defekty a rozštěp rtu/patra","synonyms":["AEC syndrom","Hayův-Wellsův syndrom","Hay-Wellsův syndrom"]},"uk":{"name":"Синдром анкілоблефарону - ектодермальних дефектів - розщілини губи/піднебіння","synonyms":["Синдром АЕС","Синдром Хей-Уеллса"],"definition":"An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate."},"zh":{"name":"睑缘粘连-外胚层发育不良-唇/腭裂综合征","synonyms":["Hay-Wells综合征"]},"tr":{"name":"Ankiloblefaron-ektodermal defektler-yarık dudak / damak sendromu","synonyms":["AEC sendromu","Hay-Wells sendromu"]}},"xrefs":[{"source":"OMIM","code":"106260","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1008188767"},{"source":"MONDO","code":"0007124","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535847","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406709","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6571","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3022,"name":"Rapp-Hodgkin syndrome","status":"inactive"},{"type":"Moved to","orpha":99694,"name":"Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]},{"orpha":98565,"name":"Syndromic ankyloblepharon filiforme adnatum","classifications":[147,156,189]}],"children":[{"orpha":1072,"name":"Ankyloblepharon filiforme adnatum-cleft palate syndrome","type":"Clinical subtype"},{"orpha":1074,"name":"Ankyloblepharon filiforme adnatum-imperforate anus syndrome","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":1072,"name":"Ankyloblepharon filiforme adnatum-cleft palate syndrome"}}],"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":"2026-06-08","source":"19676059[PMID]_20556892[PMID]_19681142[PMID]","terms":[{"hpo":"HP:0001092","label":"Absent lacrimal punctum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002299","label":"Brittle hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001019","label":"Erythroderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007513","label":"Generalized hypopigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011358","label":"Generalized hypopigmentation of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004528","label":"Generalized hypotrichosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001795","label":"Hyperconvex nail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100699","label":"Scarring","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030056","label":"Uncombable hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005709","label":"2-3 toe cutaneous syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009755","label":"Ankyloblepharon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001798","label":"Anonychia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033665","label":"Diminished health-related quality of life","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034542","label":"Hairshafts with longitudinal grooves","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001765","label":"Hammertoe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000564","label":"Lacrimal duct atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011074","label":"Localized hypoplasia of dental enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004552","label":"Scarring alopecia of scalp","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200141","label":"Small, conical teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000211","label":"Trismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011939","label":"3-4 finger cutaneous syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000648","label":"3-4 toe cutaneous syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010055","label":"Broad hallux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000378","label":"Cupped ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100257","label":"Ectrodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Very rare (<4-1%)","criteria":null}]}}