{"orpha":294,"name":"Fetal cytomegalovirus syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Antenatal CMV infection","Antenatal cytomegalovirus infection","Mother-to-child transmission of cytomegalovirus syndrome"],"definition":"A fetopathy that is likely to occur when a cytomegalovirus (CMV) infected pregnant woman transmits the virus <i>in utero</i>. Children born with congenital CMV infection may present with hepatomegaly, splenomegaly, jaundice, pneumonitis, fetal growth retardation, petechiae, purpura, and thrombocytopenia. Congenital CMV infection can equally result in major neurological sequelae, including microcephaly, intracranial calcifications, sensorineural hearing loss, chorioretinitis, intellectual and motor disabilities, and seizure disorders. CMV disease sequelae caused by a primary infection are usually more severe than those caused by the reactivation of a latent infection.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-294/","orphanet_url":"https://www.orpha.net/en/disease/detail/294","names":{"fr":{"name":"Embryopathie à cytomégalovirus","synonyms":["Infection anténatale au CMV","Infection anténatale au cytomégalovirus"],"definition":"Foetopathie susceptible de survenir lorsqu'une femme enceinte ayant contracté une infection à cytomégalovirus (CMV) transmet le virus <i>in utero</i>. Les enfants naissant avec une infection congénitale à CMV peuvent présenter une hépatomégalie, une splénomégalie, un ictère, une pneumonie, un retard de croissance foetal, des pétéchies, un purpura et une thrombocytopénie. L'infection congénitale à CMV peut aussi entraîner des séquelles neurologiques majeures, dont microcéphalie, calcifications intracrâniennes, surdité neurosensorielle, choriorétinite, déficience intellectuelle, troubles moteurs, et troubles convulsifs. Les séquelles causées par une infection primaire à CMV sont généralement plus sévères que celles causées par la réactivation d'une infection latente."},"de":{"name":"Fetales Zytomegalie-Syndrom","synonyms":["CMV-Infektion, vorgeburtliche","Zytomegalie-Syndrom durch Mutter-Kind-Übertragung","Zytomegalievirus-Embryofetopathie","Zytomegalievirus-Infektion, pränatale"],"definition":"Das Fetale Zytomegalie-Syndrom ist eine Fetopathie, die sich ausbilden kann, wenn eine mit dem Zytomegalievirus (CMV) infizierte Schwangere das Virus im Uterus überträgt. Kinder, die mit einer angeborenen CMV-Infektion geboren wurden, können Hepatomegalie, Splenomegalie, Gelbsucht, Lungenentzündung, fetale Wachstumsretardierung, Petechien, Purpura und Thrombozytopenie aufweisen. Eine angeborene CMV-Infektion kann ebenfalls zu schwerwiegenden neurologischen Folgen führen, darunter Mikrozephalie, intrakraniale Verkalkungen, sensorineuraler Hörverlust, Chorioretinitis, intellektuelle und motorische Behinderungen sowie Krampfanfälle. CMV-Krankheitsfolgen, die durch eine Primärinfektion verursacht werden, sind in der Regel schwerer als solche, die durch die Reaktivierung einer latenten Infektion auftreten."},"es":{"name":"Síndrome de citomegalovirus fetal","synonyms":["Infección prenatal por CMV","Infección prenatal por citomegalovirus","Transmisión materna del síndrome de citomegalovirus"],"definition":"Es una fetopatía que puede producirse cuando una gestante infectada por el CMV transmite el virus <i>in utero</i> al embrion/feto. Los niños nacidos con una infección congénita por CMV pueden presentar hepatomegalia, esplenomegalia, ictericia, neumonitis, retraso en el crecimiento fetal, petequias, púrpura y trombocitopenia. Asimismo, la infección congénita por CMV puede causar secuelas neurológicas importantes que incluyen microcefalia, calcificaciones intracraneales, pérdida auditiva neurosensorial, coriorretinitis, discapacidad intelectual y motora, y trastornos convulsivos. Las secuelas de la enfermedad de CMV causadas por una infección primaria son generalmente más graves que aquellas causadas por reactivación de una infección latente."},"it":{"name":"Sindrome fetale da citomegalovirus","synonyms":["Infezione prenatale da CMV","Infezione prenatale da citomegalovirus"],"definition":"La sindrome da infezione da citomegalovirus (CMV) nel feto è una fetopatia che può insorgere quando una donna gravida, positiva al CMV, trasmette il virus in utero. I neonati affetti dall'infezione congenita da CMV possono presentare epatomegalia, splenomegalia, ittero, polmonite, ritardo della crescita prenatale, petecchie, porpora e trombocitopenia. L'infezione congenita da CMV può anche comportare gravi sequele neurologiche, compresa la microcefalia, le calcificazioni intracraniche, la sordità neurosensoriale, la corioretinite, la disabilità motoria e cognitiva e l'epilessia. Di solito, le sequele della malattia da CMV causate da un'infezione primaria sono più gravi rispetto a quelle causate dalla riattivazione di un'infezione latente."},"nl":{"name":"Foetaal cytomegalovirussyndroom","synonyms":["Overdracht van moeder op kind van cytomegalovirussyndroom","Prenatale CMV-infectie","Prenatale cytomegalovirusinfectie"],"definition":"Een foetopathie die met grote waarschijnlijkheid kan voorkomen wanneer een zwangere, met CMV geïnfecteerde vrouw het virus <i>in utero</i> overdraagt. Kinderen die worden geboren met congenitale CMV-infectie vertonen mogelijk hepatomegalie, splenomegalie, geelzucht, pneumonitis, foetale groeiretardatie, petechiën, purpura, en trombocytopenie. Congenitale CMV-infectie kan eveneens leiden tot ernstige neurologische restverschijnselen, waaronder microcefalie, intracraniële calcificaties, sensorineuraal gehoorverlies, chorioretinitis, intellectuele en motorische beperkingen, en convulsieve aandoeningen. Restverschijnselen van CMV-ziekte veroorzaakt door een primaire infectie zijn doorgaans ernstiger dan restverschijnselen veroorzaakt door de reactivering van een latente infectie."},"pt":{"name":"Síndrome de citomegalovírus fetal","synonyms":["Infeção pré-natal por CMV","Infeção pré-natal por citomegalovírus"]},"pl":{"name":"Zespół cytomegalii płodu","synonyms":["Prenatalne zakażenie CMV","Prenatalne zakażenie cytomegalowirusem"]},"cs":{"name":"Fetální cytomegalovirový syndrom","synonyms":["Prenatální CMV infekce","Prenatální cytomegalovirová infekce"]},"uk":{"name":"Фетальний цитомегаловірусний синдром","synonyms":["Антенатальна ЦМВ-інфекція","Антенатальна цитомегаловірусна інфекція","Передача цитомегаловірусного синдрому від матері до дитини"],"definition":"A fetopathy that is likely to occur when a cytomegalovirus (CMV) infected pregnant woman transmits the virus <i>in utero</i>. Children born with congenital CMV infection may present with hepatomegaly, splenomegaly, jaundice, pneumonitis, fetal growth retardation, petechiae, purpura, and thrombocytopenia. Congenital CMV infection can equally result in major neurological sequelae, including microcephaly, intracranial calcifications, sensorineural hearing loss, chorioretinitis, intellectual and motor disabilities, and seizure disorders. CMV disease sequelae caused by a primary infection are usually more severe than those caused by the reactivation of a latent infection."},"zh":{"name":"胎儿巨细胞病毒综合征","synonyms":["母婴传播巨细胞病毒综合征"]},"tr":{"name":"Fetal sitomegalovirüs sendromu","synonyms":["Antenatal CMV enfeksiyonu","Antenatal sitomegalovirüs enfeksiyonu","Sitomegalovirüs sendromunun anneden çocuğa geçişi"]}},"xrefs":[{"source":"ICD-10","code":"P35.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"KA62.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1515465998"},{"source":"MONDO","code":"0017409","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0349499","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1480","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":40.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-08-11","source":"32134480[PMID]_33019752[PMID]","terms":[{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012424","label":"Chorioretinitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002908","label":"Conjugated hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000967","label":"Petechiae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000573","label":"Retinal hemorrhage","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}]}}