{"orpha":291,"name":"Congenital varicella syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Antenatal varicella virus infection","Mother-to-child transmission of varicella syndrome"],"definition":"A rare acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-291/","orphanet_url":"https://www.orpha.net/en/disease/detail/291","names":{"fr":{"name":"Syndrome de varicelle congénitale","synonyms":["Embryopathie au virus de la varicelle"],"definition":"Syndrome malformatif acquis caractérisé par des anomalies cutanées, neurologiques, oculaires, des membres et de la croissance, secondaire à l'infection maternelle par le virus <i>Varicella-Zoster</i> (VZV)."},"de":{"name":"Varizellen-Syndrom, kongenitales","synonyms":["Varicella-Virus-Infektion, pränatale","Varizellen-Embryo-Fetopathie","Varizellen-Syndrom durch Mutter-Kind-Übertragung","Varizellen-Syndrom, fetales"],"definition":"Eine seltene erworbene syndromale Entwicklungsanomalie, die durch Defekte der Haut, des Nervensystems, der Augen, der Gliedmaßen und des Wachstums infolge einer mütterlichen Infektion mit dem Varizella-Zoster-Virus (VZV) gekennzeichnet ist."},"es":{"name":"Síndrome de varicela congénita","synonyms":["Infección prenatal por el virus de la varicela","Transmisión materna del síndrome de varicela","Transmisión materna del síndrome de varicela congénita"],"definition":"Es un síndrome poco frecuente de anomalías adquiridas del desarrollo que se caracteriza por defectos de la piel, neurológicos, oculares, de las extremidades y del crecimiento secundarios a la infección materna por el virus de la varicela-zoster (VVZ)."},"it":{"name":"Sindrome da varicella fetale","synonyms":["Infezione prenatale da virus della varicella"]},"nl":{"name":"Congenitaal varicellasyndroom","synonyms":["Prenatale infectie door varicellavirus","Transmissie van moeder op kind van varicellasyndroom"],"definition":"Een zeldzaam verworven ontwikkelingsanomalie-syndroom, gekenmerkt door huiddefecten, neurologische en oculaire defecten, ledemaatdefecten en groeidefecten secundair aan maternale infectie door varicella-zostervirus (VZV)."},"pt":{"name":"Síndrome varicela congénita","synonyms":["Infeção pré-natal pelo vírus da varicela","Síndrome varicela fetal"]},"pl":{"name":"Zespół wrodzonej ospy wietrznej","synonyms":["Prenatalne zakażenie wirusem ospy wietrznej","Prenatalne zakażenie wirusem ospy wietrznej"],"definition":"Rzadki zespół nabytych wad rozwojowych, charakteryzujący się wadami skóry, układu nerwowego, oczu, kończyn oraz zaburzeniami wzrastania wtórnymi do odmatczynego zakażenia wirusem ospy wietrznej-półpaśca (Varicella-Zoster; VZV)."},"cs":{"name":"Vrozený varicellový syndrom","synonyms":["Prenatální nákaza virem vericelly"]},"uk":{"name":"Вроджений синдром вітряної віспи","synonyms":["Антенатальна інфекція вірусу вітряної віспи","Передача вітряної віспи від матері до дитини"],"definition":"A rare acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection."},"zh":{"name":"先天性水痘综合征","synonyms":["母婴传播型水痘综合征"]},"tr":{"name":"Doğumsal suçiçeği sendromu","synonyms":["Antenatal suçiçeği virüsü enfeksiyonu","Su çiçeği sendromunun anneden çocuğa bulaşması"]}},"xrefs":[{"source":"ICD-10","code":"P35.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"KA62.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"662161761"},{"source":"MONDO","code":"0017372","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275251","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"45","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":"Cases/families","qualification":"Case(s)","class":null,"value":130.0,"area":"Worldwide","status":"Validated","source":"26965725[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26965725[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","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:0002983","label":"Micromelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null}]}}