{"orpha":290,"name":"Congenital rubella syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CRS","Fetal rubella syndrome","Mother-to-child transmission of rubella syndrome"],"definition":"An infectious embryofetopathy that may present in an infant as a result of maternal infection early in pregnancy and subsequent fetal infection with rubella virus. The disorder can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-290/","orphanet_url":"https://www.orpha.net/en/disease/detail/290","names":{"fr":{"name":"Syndrome de rubéole congénitale","synonyms":["CRS","Embryofoetopathie rubéolique","Rubéole congénitale malformative","SRC"],"definition":"Embryofoetopathie infectieuse pouvant survenir chez l'enfant à la suite d'une infection maternelle puis foetale par le virus de la rubéole. Le SRC peut conduire à une surdité, une cataracte et de multiples autres manifestations permanentes incluant des séquelles cardiaques et neurologiques."},"de":{"name":"Rötelnembryopathie","synonyms":["CRS","Embryopathia rubeolaris","Röteln, kongenitale","Rötelnembryofetopathie","Rötelninfektion durch Mutter-Kind-Übertragung"],"definition":"Eine infektiöse Embryofetopathie, die bei einem Säugling als Folge einer mütterlichen Infektion zu Beginn der Schwangerschaft und einer anschließenden fetalen Infektion mit dem Rötelnvirus auftreten kann. Die Erkrankung kann zu Taubheit, Katarakt und einer Vielzahl anderer bleibender Erscheinungen, einschließlich kardialer und neurologischer Defekte, führen."},"es":{"name":"Síndrome de rubéola congénita","synonyms":["CRS","Síndrome de rubéola fetal","Transmisión materna del síndrome de rubéola"],"definition":"Es una embriofetopatía infecciosa que puede presentarse en lactantes como resultado de una infección materna al comienzo del embarazo y la posterior infección fetal por el virus de la rubéola. El trastorno puede provocar sordera, cataratas y muchas otras manifestaciones permanentes, que incluyen secuelas cardíacas y neurológicas."},"it":{"name":"Sindrome da rosolia congenita","synonyms":["CRS","Sindrome da rosolia fetale"],"definition":"La sindrome da rosolia congenita (CRS) è un'embrio/fetopatia infettiva che può colpire il neonato a seguito di un'infezione da virus della rosolia contratta dalla madre nelle prime fasi della gravidanza e successivamente trasmessa al feto. La malattia può causare sordità, cataratta e altri segni clinici permanenti, tra i quali le cardiopatie e i deficit neurologici."},"nl":{"name":"Congenitaal rubellasyndroom","synonyms":["CRS","Foetaal rubellasyndroom","Overdracht van moeder op kind van rubellasyndroom"],"definition":"Een infectieuze embryofoetopathie die zich kan voordoen in een zuigeling als gevolg van maternale infectie al vroeg in de zwangerschap en daaropvolgende foetale infectie met rubellavirus. De aandoening kan leiden tot doofheid, cataract, en verschillende andere permanente manifestaties waaronder cardiale en neurologische defecten."},"pt":{"name":"Síndrome de rubéola congénita"},"pl":{"name":"Różyczka wrodzona","synonyms":["CRS","Różyczka płodowa"]},"cs":{"name":"Vrozená rubeola","synonyms":["CRS","Fetální zarděnkový syndrom","Greggův syndrom","Vrozené zarděnky","Vrozený zarděnkový syndrom"]},"uk":{"name":"Синдром вродженої краснухи","synonyms":["CRS","Синдром краснухи плода","Передача синдрому краснухи від матері до дитини"],"definition":"An infectious embryofetopathy that may present in an infant as a result of maternal infection early in pregnancy and subsequent fetal infection with rubella virus. The disorder can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects."},"zh":{"name":"先天性风疹综合征","synonyms":["母婴传播型风疹综合征"]},"tr":{"name":"Doğumsal kızamıkçık sendromu","synonyms":["CRS","fetal kızamıkçık sendromu","Kızamıkçık sendromunun anneden çocuğa geçişi"]}},"xrefs":[{"source":"ICD-10","code":"P35.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"KA62.8","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1059053724"},{"source":"MONDO","code":"0017361","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D012410","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0035921","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4744","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083496","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166490,"name":"Infectious disease with epilepsy","classifications":[181]},{"orpha":232035,"name":"Infectious embryofetopathy","classifications":[147,203,216]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_World Health Organization 2005[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.29,"area":"France","status":"Validated","source":"22178098[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.24,"area":"Germany","status":"Validated","source":"22178098[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.8,"area":"Italy","status":"Validated","source":"22178098[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.64,"area":"Netherlands","status":"Validated","source":"22178098[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.27,"area":"Austria","status":"Validated","source":"22178098[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.18,"area":"Romania","status":"Validated","source":"22178098[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.22,"area":"Spain","status":"Validated","source":"22178098[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.02,"area":"Turkey","status":"Validated","source":"22178098[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.03,"area":"Europe","status":"Not yet validated","source":"22178098[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.35,"area":"Europe","status":"Not yet validated","source":"22178098[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000235","label":"Abnormality of the fontanelles or cranial sutures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004414","label":"Abnormality of the pulmonary artery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008053","label":"Aplasia/Hypoplasia of the iris","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001264","label":"Spastic diplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null}]}}