Fetal cytomegalovirus syndrome
Synonyms: Antenatal CMV infection · Antenatal cytomegalovirus infection · Mother-to-child transmission of cytomegalovirus syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fetal cytomegalovirus syndrome | Antenatal CMV infection · Antenatal cytomegalovirus infection · Mother-to-child transmission of cytomegalovirus syndrome |
| fr | Embryopathie à cytomégalovirus | Infection anténatale au CMV · Infection anténatale au cytomégalovirus |
| de | Fetales Zytomegalie-Syndrom | CMV-Infektion, vorgeburtliche · Zytomegalie-Syndrom durch Mutter-Kind-Übertragung · Zytomegalievirus-Embryofetopathie · Zytomegalievirus-Infektion, pränatale |
| es | Síndrome de citomegalovirus fetal | Infección prenatal por CMV · Infección prenatal por citomegalovirus · Transmisión materna del síndrome de citomegalovirus |
| it | Sindrome fetale da citomegalovirus | Infezione prenatale da CMV · Infezione prenatale da citomegalovirus |
| nl | Foetaal cytomegalovirussyndroom | Overdracht van moeder op kind van cytomegalovirussyndroom · Prenatale CMV-infectie · Prenatale cytomegalovirusinfectie |
| pt | Síndrome de citomegalovírus fetal | Infeção pré-natal por CMV · Infeção pré-natal por citomegalovírus |
| pl | Zespół cytomegalii płodu | Prenatalne zakażenie CMV · Prenatalne zakażenie cytomegalowirusem |
| cs | Fetální cytomegalovirový syndrom | Prenatální CMV infekce · Prenatální cytomegalovirová infekce |
| uk | Фетальний цитомегаловірусний синдром | Антенатальна ЦМВ-інфекція · Антенатальна цитомегаловірусна інфекція · Передача цитомегаловірусного синдрому від матері до дитини |
| zh | 胎儿巨细胞病毒综合征 | 母婴传播巨细胞病毒综合征 |
| tr | Fetal sitomegalovirüs sendromu | Antenatal CMV enfeksiyonu · Antenatal sitomegalovirüs enfeksiyonu · Sitomegalovirüs sendromunun anneden çocuğa geçişi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | P35.1 | E | specific | validated |
| ICD-11 | KA62.3 | E | specific | validated |
| MONDO | 0017409 | E | validated | |
| UMLS | C0349499 | E | validated | |
| GARD | 1480 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:166490Infectious disease with epilepsy
rare neurological diseases - ORPHA:232035Infectious embryofetopathy
rare developmental anomalies during embryogenesis; rare infectious diseases; rare teratologic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 40 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
20 annotations · validated 2023-08-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001928 | Abnormality of coagulation | |
| HP:0001903 | Anemia | |
| HP:0012424 | Chorioretinitis | |
| HP:0002908 | Conjugated hyperbilirubinemia | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002240 | Hepatomegaly | |
| HP:0001249 | Intellectual disability | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001744 | Splenomegaly | |
| HP:0001873 | Thrombocytopenia | |
| Occasional (29-5%) | ||
| HP:0002514 | Cerebral calcification | |
| HP:0012115 | Hepatitis | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000952 | Jaundice | |
| HP:0000252 | Microcephaly | |
| HP:0000648 | Optic atrophy | |
| HP:0000967 | Petechiae | |
| HP:0000573 | Retinal hemorrhage | |
| HP:0001250 | Seizure | |
| HP:0002119 | Ventriculomegaly | |
Annotation source: 32134480[PMID]_33019752[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/294
- This record as JSON: /data/d/294.json