{"orpha":2995,"name":"Baraitser-Winter cerebrofrontofacial syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns-Aftimos syndrome (FA; pachygyria, epilepsy, intellectual disability, dysmorphism) corresponds to the appearance of Baraitser-Winter cerebrofrontofacial syndrome (BWS) in elder patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2995/","orphanet_url":"https://www.orpha.net/en/disease/detail/2995","names":{"fr":{"name":"Syndrome de Baraitser-Winter cérébrofrontofacial","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare (hypertélorisme avec ptosis, nez large et bulbeux, suture métopique en crête, sourcils arqués, visage devenant progressivement grossier), colobome oculaire, pachygyrie et/ou hétérotopie en bande avec gradient antéro-postérieur, une raideur progressive des articulations et une déficience intellectuelle de degré variable, souvent accompagnée d'épilepsie sévère. Le syndrome pachygyrie - épilepsie - déficience intellectuelle - dysmorphie (syndrome de Fryns-Aftimos [SFA]) correspond à la présentation du SBW chez les patients âgés."},"de":{"name":"Baraitser-Winter zerebro-fronto-faziales Syndrom","synonyms":["BWCFF","Baraitser-Winter-Syndrom"],"definition":"Ein seltenes Fehlbildungssyndrom mit multiplen angeborenen Anomalien/Dysmorphien. Charakteristische Zeichen sind faziale Dysmorphien (metopische Leiste, Hypertelorismus mit Ptose, breite kolbige Nase, geschwungene Augenbrauen, zunehmende Vergröberung des Gesichtes), okuläres Kolobom, Pachygyrie und/oder Band-Heterotopien mit antero-posteriorem Gradienten, fortschreitende Versteifung der Gelenke und intellektuelles Defizit unterschiedlichen Ausmaßes, oft mit schwerer Epilepsie. Das Fryns-Aftimos-Syndrom (FAS) bezeichnet das Erscheinungsbild des Baraitser-Winter-Syndroms (BWS) bei älteren Patienten."},"es":{"name":"Síndrome cerebrofrontofacial de Baraitser-Winter","definition":"El síndrome de Baraitser-Winter (BWS) es un síndrome malformativo caracterizado por dismorfismo facial (sutura metópica en cresta, hipertelorismo con ptosis, nariz bulbosa ancha, cejas arqueadas, engrosamiento progresivo de la cara), coloboma ocular, paquigiria y/o heterotopías en banda con gradiente anteroposterior, rigidez articular progresiva y déficit intelectual de gravedad variable, a menudo con epilepsia grave. El síndrome Fryns-Aftimos (FAS) se corresponde con la aparición del BWS en pacientes de edad avanzada."},"it":{"name":"Sindrome di Baraitser-Winter","synonyms":["Sindrome cerebro-fronto-facciale, tipo 3","Sindrome coloboma irideo-ptosi-deficit cognitivo"],"definition":"La sindrome Baraitser-Winter (BWS) è una sindrome malformativa con dismorfismi facciali (sutura metopica a cresta, ipertelorismo con ptosi, naso largo a patata, sopracciglia arcuate, tratti facciali progressivamente più grossolani), coloboma oculare, pachigiria e/o eterotopie a banda con gradiente antero-posteriore, progressivo irrigidimento articolare e deficit cognitivo di gravità variabile, spesso con grave epilessia. Si manifesta in combinazione con la sindrome di Fryns-Aftimos (FAS) nei pazienti anziani."},"nl":{"name":"Cerebrofrontofaciaal syndroom van Baraitser-Winter","definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door faciale dysmorfie (hypertelorisme met ptosis, brede knolvormige neus, richel aan voorhoofdsnaad, gebogen wenkbrauwen, progressieve verruwing van aangezicht), oculair coloboom, pachygyrie en/of bandheterotopie met anteroposterieure gradiënt, progressieve verstijving van gewrichten, en intellectuele achterstand met variabele ernst, vaak met ernstige epilepsie. Syndroom van Fryns-Aftimos (FA; pachygyrie, epilepsie, intellectuele achterstand, dysmorfie) komt overeen met de presentatie van cerebrofrontofaciaal syndroom van Baraitser-Winter (BWS) bij oudere patiënten."},"pt":{"name":"Síndrome cerebro-fronto-facial Baraitser-Winter"},"pl":{"name":"Zespół mózgowo-czołowo-twarzowy Baraitsera i Wintera","synonyms":["Rozszczep tęczówki - ptoza - niepełnosprawność intelektualna","Zespół mózgowo-czołowo-twarzowy typu 3"]},"cs":{"name":"Baraitserův-Winterův syndrom","synonyms":["Cerebrofrontofaciální syndrom, typ 3","Syndrom zahrnující kolobom duhovky, ptózu a mentální retardaci","Baraitser-Winterův syndrom"]},"uk":{"name":"Цереброфронтофаціальний синдром Барайзера-Вінтера","definition":"Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients."},"zh":{"name":"Baraitser-Winter脑额面部综合征"},"tr":{"name":"Baraitser-Winter serebrofrontofasiyal sendrom"}},"xrefs":[{"source":"OMIM","code":"243310","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614583","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017579","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680770","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5279","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2649,"name":"Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome","status":"inactive"},{"type":"Moved to","orpha":94084,"name":"Cerebro-oculo-facial-lymphatic syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":102010,"name":"Other syndrome with lissencephaly as a major feature","classifications":[147,156,181]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"ACTB","name":"actin beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"22366783[PMID]","hgnc":"132","ensembl":"ENSG00000075624","omim":"102630","loci":["7p22.1"]},{"symbol":"ACTG1","name":"actin gamma 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"22366783[PMID]","hgnc":"144","ensembl":"ENSG00000184009","omim":"102560","loci":["17q25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"27625340[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27625340[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-10","source":null,"terms":[{"hpo":"HP:0002381","label":"Aphasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000437","label":"Depressed nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010529","label":"Echolalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012905","label":"Euryblepharon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001339","label":"Lissencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000637","label":"Long palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040188","label":"Osteochondrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002000","label":"Short columella","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010935","label":"Abnormality of the upper urinary tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100308","label":"Cerebral cortical hemiatrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001100","label":"Heterochromia iridis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000072","label":"Hydroureter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003189","label":"Long nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030502","label":"Retinoschisis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012157","label":"Subcortical cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009942","label":"Duplication of thumb phalanx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000588","label":"Optic disc coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Occasional (29-5%)","criteria":null}]}}