{"orpha":1270,"name":"Bowen-Conradi syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Bowen syndrome, Hutterite type"],"definition":"A rare developmental defect during embryogenesis characterized by moderate to severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, profound psychomotor delay, hip and knee contractures and rockerbottom feet.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1270/","orphanet_url":"https://www.orpha.net/en/disease/detail/1270","names":{"fr":{"name":"Syndrome de Bowen-Conradi","synonyms":["Syndrome de Bowen type huttérite"],"definition":"Défaut de développement rare au cours de l'embryogenèse, caractérisé par un retard de croissance pré et postnatale sévère, une macrocéphalie, une dysmorphie faciale, un retard psychomoteur extrême, des contractures de la hanche et des genoux et des pieds en piolet."},"de":{"name":"Bowen-Conradi-Syndrom","synonyms":["Bowen-Syndrom, Hutteriten-Typ"],"definition":"Eine seltene Entwicklungsstörung während der Embryogenese, die sich durch eine mäßige bis schwere pränatale und postnatale Wachstumsretardierung, Mikrozephalie, ein ausgeprägtes Gesichtsaussehen, eine ausgeprägte psychomotorische Verzögerung, Hüft- und Kniekontrakturen und 'Schaukelstuhlfüße' auszeichnet."},"es":{"name":"Síndrome de Bowen-Conradi","synonyms":["Síndrome de Bowen tipo Huterita"],"definition":"Es un defecto del desarrollo embrionario poco frecuente caracterizado por retraso del crecimiento pre- y postnatal de moderado a grave, microcefalia, apariencia facial característica, retraso psicomotor profundo, contracturas de cadera y de rodilla, y pies en mecedora."},"it":{"name":"Sindrome di Bowen-Conradi","synonyms":["Sindrome di Bowen, tipo hutterita"],"definition":"Si tratta di un difetto raro dello sviluppo dell'embrione, caratterizzato da ritardo della crescita prenatale e postnatale moderato-grave, microcefalia, facies caratteristica, grave ritardo psicomotorio, contratture delle anche e delle ginocchia e piedi ''a piccozza''."},"nl":{"name":"Syndroom van Bowen-Conradi","synonyms":["Syndroom van Bowen, Hutteriet-type"],"definition":"Een zeldzaam ontwikkelingsdefect tijdens embryogenese, gekarakteriseerd door matige tot ernstige prenatale en postnatale groeiretardatie, microcefalie, kenmerkend gelaat, ernstige psychomotorische achterstand, contracturen van heup en knie, en talus verticalis ('rockerbottom'-voeten of schommelvoeten)."},"pt":{"name":"Síndrome Bowen-Conradi","synonyms":["Síndrome Bowen tipo Hutterite"]},"pl":{"name":"Zespół Bowena i Conradiego","synonyms":["Zespół Bowena, typ Hutterite"]},"cs":{"name":"Bowenův-Conradiho syndrom","synonyms":["Bowenův syndrom, hutteritský typ","Bowen-Conradiho syndrom"]},"uk":{"name":"Синдром Боуена-Конраді","synonyms":["Синдром Боуена, гуттеритний тип"],"definition":"A rare developmental defect during embryogenesis characterized by moderate to severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, profound psychomotor delay, hip and knee contractures and rockerbottom feet."},"zh":{"name":"Bowen-Conradi综合征","synonyms":["Bowen综合征，Hutterite型"]},"tr":{"name":"Bowen-Conradi sendromu","synonyms":["Bowen sendromu, Hutterite tipi"]}},"xrefs":[{"source":"OMIM","code":"211180","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1713786719"},{"source":"MONDO","code":"0008879","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537081","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859405","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5950","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"EMG1","name":"EMG1 N1-specific pseudouridine methyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19463982[PMID]","hgnc":"16912","ensembl":"ENSG00000126749","omim":"611531","loci":["12p13.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":281.0,"area":"Specific population","status":"Validated","source":"12838567[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","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:0000448","label":"Prominent nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008850","label":"Severe postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008846","label":"Severe intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}