ORPHA:290
Congenital rubella syndrome
Synonyms: CRS · Fetal rubella syndrome · Mother-to-child transmission of rubella syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital rubella syndrome | CRS · Fetal rubella syndrome · Mother-to-child transmission of rubella syndrome |
| fr | Syndrome de rubéole congénitale | CRS · Embryofoetopathie rubéolique · Rubéole congénitale malformative · SRC |
| de | Rötelnembryopathie | CRS · Embryopathia rubeolaris · Röteln, kongenitale · Rötelnembryofetopathie · Rötelninfektion durch Mutter-Kind-Übertragung |
| es | Síndrome de rubéola congénita | CRS · Síndrome de rubéola fetal · Transmisión materna del síndrome de rubéola |
| it | Sindrome da rosolia congenita | CRS · Sindrome da rosolia fetale |
| nl | Congenitaal rubellasyndroom | CRS · Foetaal rubellasyndroom · Overdracht van moeder op kind van rubellasyndroom |
| pt | Síndrome de rubéola congénita | |
| pl | Różyczka wrodzona | CRS · Różyczka płodowa |
| cs | Vrozená rubeola | CRS · Fetální zarděnkový syndrom · Greggův syndrom · Vrozené zarděnky · Vrozený zarděnkový syndrom |
| uk | Синдром вродженої краснухи | CRS · Синдром краснухи плода · Передача синдрому краснухи від матері до дитини |
| zh | 先天性风疹综合征 | 母婴传播型风疹综合征 |
| tr | Doğumsal kızamıkçık sendromu | CRS · fetal kızamıkçık sendromu · Kızamıkçık sendromunun anneden çocuğa geçişi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | P35.0 | E | specific | validated |
| ICD-11 | KA62.8 | E | specific | validated |
| MONDO | 0017361 | E | validated | |
| MeSH | D012410 | E | validated | |
| UMLS | C0035921 | E | validated | |
| GARD | 4744 | E | validated | |
| MedDRA | 10083496 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:166490Infectious disease with epilepsy
rare neurological diseases - ORPHA:232035Infectious embryofetopathy
rare developmental anomalies during embryogenesis; rare infectious diseases; rare teratologic disorders - ORPHA:98641Syndromic cataract
rare ophthalmic disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
12 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | — | Worldwide | Class only | Validated | [EXPERT]_World Health Organization 2005[OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.29 / 100 000 | France | Value and class | Validated | 22178098[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.24 / 100 000 | Germany | Value and class | Validated | 22178098[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.8 / 100 000 | Italy | Value and class | Validated | 22178098[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.64 / 100 000 | Netherlands | Value and class | Validated | 22178098[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.27 / 100 000 | Austria | Value and class | Validated | 22178098[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.18 / 100 000 | Romania | Value and class | Validated | 22178098[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.22 / 100 000 | Spain | Value and class | Validated | 22178098[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.02 / 100 000 | Turkey | Value and class | Validated | 22178098[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.03 / 100 000 | Europe | Value and class | Not yet validated | 22178098[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.35 / 100 000 | Europe | Value and class | Not yet validated | 22178098[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | 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.
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HPO phenotypes
31 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000518 | Cataract | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000235 | Abnormality of the fontanelles or cranial sutures | |
| HP:0004414 | Abnormality of the pulmonary artery | |
| HP:0001903 | Anemia | |
| HP:0008053 | Aplasia/Hypoplasia of the iris | |
| HP:0001631 | Atrial septal defect | |
| HP:0000501 | Glaucoma | |
| HP:0002240 | Hepatomegaly | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0000568 | Microphthalmia | |
| HP:0000639 | Nystagmus | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0004322 | Short stature | |
| HP:0000988 | Skin rash | |
| HP:0001264 | Spastic diplegia | |
| HP:0001744 | Splenomegaly | |
| HP:0000486 | Strabismus | |
| HP:0001873 | Thrombocytopenia | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0007957 | Corneal opacity | |
| HP:0000952 | Jaundice | |
| HP:0001250 | Seizure | |
| HP:0100651 | Type I diabetes mellitus | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/290
- This record as JSON: /data/d/290.json