{"orpha":2319,"name":"Juberg-Hayward syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cleft lip/palate-abnormal thumbs-microcephaly syndrome","Orocraniodigital syndrome"],"definition":"Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2319/","orphanet_url":"https://www.orpha.net/en/disease/detail/2319","names":{"fr":{"name":"Syndrome de Juberg-Hayward","synonyms":["Syndrome de fente labiopalatine-anomalie des pouces-microcéphalie","Syndrome oro-cranio-digital"],"definition":"Le syndrome de Juberg-Hayward est un syndrome polymalformatif qui associe des anomalies squelettiques multiples à une microcéphalie, une dysmorphie faciale, des anomalies urogénitales et une déficience intellectuelle."},"de":{"name":"Juberg-Hayward-Syndrom","synonyms":["Lippenkiefergaumenspalte - Daumenanomalien - Mikrozephalie","Oro-kranio-digitales Syndrom"]},"es":{"name":"Síndrome de Juberg-Hayward","synonyms":["Fisura labiopalatina-anomalía de los pulgares-microcefalia","Síndrome oro-cráneo-digital"],"definition":"Es un síndrome polimalformativo que asocia múltiples anomalías esqueléticas con microcefalia, dismorfia facial, anomalías urogenitales y déficit intelectual."},"it":{"name":"Sindrome di Juberg-Hayward","synonyms":["Labiopalatoschisi - anomalia del pollice - microcefalia","Schisi labiopalatina - anomalia del pollice - microcefalia","Sindrome oro-cranio-digitale"]},"nl":{"name":"Syndroom van Juberg-Hayward","synonyms":["Gespleten lip/gehemelte - abnormale duimen - microcefalie-syndroom","Orocraniodigitaal syndroom"],"definition":"Juberg-Haywardsyndroom is een polymalformatief syndroom dat meerdere skeletale afwijkingen associeert met microcefalie, gelaatsdysmorfie, urogenitale afwijkingen en intellectueel tekort."},"pt":{"name":"Síndrome Juberg-Hayward","synonyms":["Síndrome de fenda lábio-palatina-anomalia dos polegares-microcefalia","Síndrome oro-cranio-digital"]},"pl":{"name":"Zespół Juberga i Haywarda","synonyms":["Rozszczep wargi/podniebienia - nieprawidłowe kciuki - małogłowie","Zespół ustno-czaszkowo-palcowy"]},"cs":{"name":"Jubergův-Haywardův syndrom","synonyms":["Orokraniodigitální syndrom","Syndrom zahrnující rozštěp rtu a patra, abnormální palce a mikrocefalii","Juberg-Haywardův syndrom"]},"uk":{"name":"Синдром Юберга-Хейворда","synonyms":["Розщілина губи/піднебіння - аномалії великих пальців - синдром мікроцефалії","Орокраніодигітальний синдром"],"definition":"Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit."},"zh":{"name":"Juberg-Hayward综合征","synonyms":["唇腭裂-拇指异常-小头畸形综合征"]},"tr":{"name":"Juberg-Hayward sendromu","synonyms":["Orokraniyodijital sendromu","Yarık dudak / damak-anormal başparmak-mikrosefali sendromu"]}},"xrefs":[{"source":"OMIM","code":"216100","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":"395922030"},{"source":"MONDO","code":"0008992","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537690","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796099","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3060","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":"ESCO2","name":"establishment of sister chromatid cohesion N-acetyltransferase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32977150[PMID]","hgnc":"27230","ensembl":"ENSG00000171320","omim":"609353","loci":["8p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"22811276[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22811276[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-23","source":null,"terms":[{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001765","label":"Hammertoe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001545","label":"Anteriorly placed anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null}]}}