{"orpha":2707,"name":"Oculocerebrofacial syndrome, Kaufman type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, distinctive craniofacial features and variable multiple congenital anomalies including ocular, brain, urogenital and skeletal abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2707/","orphanet_url":"https://www.orpha.net/en/disease/detail/2707","names":{"fr":{"name":"Syndrome oculo-cérébro-facial type Kaufman","definition":"Déficience intellectuelle syndromique rare d'origine génétique, caractérisée par une déficience intellectuelle sévère, une dysmorphie craniofaciale typique et de nombreuses anomalies congénitales inconstantes, dont des anomalies squelettiques, urogénitales, cérébrales et oculaires."},"de":{"name":"Okulo-zerebro-faziales Syndrom, Typ Kaufman","synonyms":["Kaufman-Syndrom"],"definition":"Eine genetisch bedingte syndromale Form der Intelligenzminderung, die durch eine schwere Intelligenzminderung, ausgeprägte kraniofaziale Merkmale und variable, multiple angeborene Anomalien, einschließlich Augen-, Gehirn-, Urogenital- und Skelettanomalien, gekennzeichnet ist."},"es":{"name":"Síndrome óculo-cerebro-facial tipo Kaufman","definition":"Es una discapacidad intelectual sindrómica, de origen genético y poco frecuente, caracterizada por discapacidad intelectual grave, características craneofaciales distintivas y anomalías congénitas múltiples variables que incluyen anomalías oculares, cerebrales, urogenitales y esqueléticas."},"it":{"name":"Sindrome oculo-cerebro-facciale, tipo Kaufman","definition":"Si tratta di una disabilità intellettiva sindromica rara, di origine genetica, caratterizzata da disabilità intellettiva grave, dismorfismi craniofacciali e anomalie congenite multiple (oculari, cerebrali, urogenitali e scheletriche)."},"nl":{"name":"Oculo-cerebro-faciaal syndroom, Kaufman-type","definition":"Een zeldzame, genetische syndromale intellectuele achterstand, gekarakteriseerd door ernstige intellectuele achterstand, typische craniofaciale kenmerken en variabele multipele congenitale anomalieën waaronder afwijkingen van oog, hersenen, urogenitaal stelsel, en skelet."},"pt":{"name":"Síndrome oculo-cerebro-facial, tipo Kaufman"},"pl":{"name":"Zespół oczno-mózgowo-twarzowy typu Kaufmana"},"cs":{"name":"Okulocerebrofaciální syndrom, Kaufmanův typ"},"uk":{"name":"Окулоцереброфаціальний синдром, тип Кауфмана","definition":"A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, distinctive craniofacial features and variable multiple congenital anomalies including ocular, brain, urogenital and skeletal abnormalities."},"zh":{"name":"眼脑面综合征，Kaufman型"},"tr":{"name":"Oküloserebrofasiyal sendrom, Kaufman tipi"}},"xrefs":[{"source":"OMIM","code":"244450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009485","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537013","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855663","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3084","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":329255,"name":"Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98575,"name":"Syndromic telecanthus","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"UBE3B","name":"ubiquitin protein ligase E3B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23687348[PMID]","hgnc":"13478","ensembl":"ENSG00000151148","omim":"608047","loci":["12q24.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"27763745[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27763745[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-06","source":null,"terms":[{"hpo":"HP:0000587","label":"Abnormal optic nerve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001833","label":"Long foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000159","label":"Abnormal lip morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000177","label":"Abnormality of 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(79-30%)","criteria":null},{"hpo":"HP:0010547","label":"Muscle flaccidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045074","label":"Thin eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001135","label":"Chorioretinal dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001139","label":"Choroideremia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Occasional (29-5%)","criteria":null}]}}