{"orpha":1297,"name":"Branchio-oculo-facial syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BOFS"],"definition":"A rare, dominantly inherited multiple congenital anomalies syndrome characterized by highly variable clinical phenotype involving the three main affected systems: branchial (cutaneous) defects, ophthalmic malformations and facial anomalies. Additional features can be present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1297/","orphanet_url":"https://www.orpha.net/en/disease/detail/1297","names":{"fr":{"name":"Syndrome branchio-oculo-facial","synonyms":["BOFS"],"definition":"Syndrome rare d'anomalies congénitales multiples, à transmission dominante, caractérisé par un phénotype clinique très variable impliquant les trois principaux systèmes affectés : anomalies branchiales (cutanées), malformations ophtalmiques et anomalies faciales. D'autres anomalies peuvent être présentes."},"de":{"name":"Branchio-okulo-faziales Syndrom","synonyms":["BOFS","Lee-Root-Fenske-Syndrom"],"definition":"Ein dominant vererbtes Syndrom mit multiplen angeborenen Fehlbildungen, das durch einen sehr variablen klinischen Phänotyp gekennzeichnet ist und drei Hauptsysteme betrifft: kutane (Haut-)Fehlbildungen, Augenfehlbildungen und Gesichtsfehlbildungen. Andere Merkmale können ebenfalls vorhanden sein."},"es":{"name":"Síndrome branquio-óculo-facial","synonyms":["Síndrome de Lee-Root-Fenske"],"definition":"Es un síndrome de anomalías congénitas múltiples, poco frecuente y de herencia dominante, que se caracteriza por un fenotipo clínico muy variable que afecta a los tres sistemas principales: defectos branquiales (cutáneos), malformaciones oftalmológicas y anomalías faciales. También puede asociar otras características adicionales."},"it":{"name":"Sindrome branchio-oculo-facciale","synonyms":["BOFS"],"definition":"La sindrome branchio-oculo-facciale (BOFS) è una malattia rara da anomalie congenite multiple, a trasmissione dominante, caratterizzata da un fenotipo clinico molto variabile che interessa tre sistemi: i difetti branchiali (cutanei), le malformazioni oculari e i dismorfismi facciali. I pazienti possono presentare anche altri segni clinici."},"nl":{"name":"Branchio-oculo-faciaal syndroom","synonyms":["BOFS"],"definition":"Een zeldzaam dominant overgeërfd syndroom met multipele congenitale anomalieën, gekenmerkt door een zeer variabel klinisch fenotype met betrokkenheid van drie aangetaste systemen: branchiale (cutane) defecten, oftalmische malformaties, en faciale anomalieën. Bijkomende kenmerken kunnen aanwezig zijn."},"pt":{"name":"Síndrome branquio-óculo-facial","synonyms":["BOFS"]},"pl":{"name":"Zespół skrzelowo-oczno-twarzowy","synonyms":["BOFS"]},"cs":{"name":"Branchiookulofaciální syndrom","synonyms":["BOFS"]},"uk":{"name":"Бранхіо-окуло-фаціальний синдром","synonyms":["BOFS"],"definition":"A rare, dominantly inherited multiple congenital anomalies syndrome characterized by highly variable clinical phenotype involving the three main affected systems: branchial (cutaneous) defects, ophthalmic malformations and facial anomalies. Additional features can be present."},"zh":{"name":"鳃眼面综合征","synonyms":["BOFS"]},"tr":{"name":"Branchio-okülo-yüz sendromu","synonyms":["BOFS"]}},"xrefs":[{"source":"OMIM","code":"113620","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q18.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1471530044"},{"source":"MONDO","code":"0007235","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0376524","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3212","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[{"symbol":"TFAP2A","name":"transcription factor AP-2 alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21634087[PMID]_18423521[PMID]","hgnc":"11742","ensembl":"ENSG00000137203","omim":"107580","loci":["6p24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"21634087[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21634087[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004464","label":"Postauricular pit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008606","label":"Supraauricular pit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100798","label":"Fingernail dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000579","label":"Nasolacrimal duct obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002216","label":"Premature graying of hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100268","label":"Upper lip pit","frequency":"Occasional (29-5%)","criteria":null}]}}