ORPHA:499009
Congenital syphilis
Synonyms: MTCT of syphilis · Mother-to-child transmission of syphilis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare teratologic disease caused by vertical transmission of the spirochete <i>Treponema pallidum</i> from an infected mother to the fetus, characterized by early congenital syphilis during the first two years of life (maculopapular rash progressing to desquamation, hepatosplenomegaly, osteochondritis, snuffles, and iritis), followed by late congenital syphilis with the classic Hutchinson's triad of Hutchinson's teeth, interstitial keratitis, and eighth nerve deafness. Additional signs may include saddle nose, saber shins, seizures, and mental retardation. Congenital syphilis can also result in stillbirth, neonatal death, and nonimmune hydrops.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital syphilis | MTCT of syphilis · Mother-to-child transmission of syphilis |
| fr | Syphilis congénitale | |
| de | Syphilis, kongenitale | MTCT der Syphilis · Syphilis durch Mutter-Kind-Übertragung |
| es | Sífilis congénita | Transmisión materna de la sífilis |
| it | Sifilide congenita | |
| nl | Congenitale syfilis | MTCT van syfilis · Transmissie van moeder op kind van syfilis |
| pt | Sífilis congénita | |
| pl | Kiła wrodzona | = en |
| cs | Vrozená syfilis | = en |
| uk | Вроджений сифіліс | Передача сифілісу від матері до дитини · MTCT сифілісу |
| zh | 先天性梅毒 | 母婴传播性梅毒 |
| tr | Doğumsal sifiliz | Sifilizin MTCT'si · Sifilizin anneden çocuğa bulaşması |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | A50.0 | BTNT | specific | validated |
| ICD-10 | A50.1 | BTNT | specific | validated |
| ICD-10 | A50.2 | BTNT | specific | validated |
| ICD-10 | A50.3 | BTNT | specific | validated |
| ICD-10 | A50.4 | BTNT | specific | validated |
| ICD-10 | A50.5 | BTNT | specific | validated |
| ICD-10 | A50.6 | BTNT | specific | validated |
| ICD-11 | 1A60 | E | specific | validated |
| MONDO | 0005714 | E | validated | |
| MeSH | D013590 | E | validated | |
| UMLS | C0039131 | E | validated | |
| MedDRA | 10010641 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:232035Infectious embryofetopathy
rare developmental anomalies during embryogenesis; rare infectious diseases; rare teratologic disorders
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
17 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.3 / 100 000 | Europe | Value and class | Validated | European Centre for Disease prevention and Control 2013-2017[OTHER]_ORPHANET |
| Point prevalence | 1-5 / 10 000 | 15.7 / 100 000 | United States | Value and class | Validated | CDC Centers for disease Control and prevention 2016[OTHER]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 15.7 / 100 000 | United States | Value and class | Validated | CDC Centers for disease Control and prevention 2016[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.3 / 100 000 | Europe | Value and class | Validated | European Centre for Disease prevention and Control 2013-2017[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.3 / 100 000 | Czech Republic | Value and class | Validated | European Centre for Disease prevention and Control 2013-2017[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.04 / 100 000 | Denmark | Value and class | Validated | European Centre for Disease prevention and Control 2013-2017[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.1 / 100 000 | Greece | Value and class | Validated | European Centre for Disease prevention and Control 2013-2015[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.7 / 100 000 | Hungary | Value and class | Validated | European Centre for Disease prevention and Control 2013-2017[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.1 / 100 000 | Italy | Value and class | Validated | European Centre for Disease prevention and Control 2013-2015[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 4.6 / 100 000 | Lithuania | Value and class | Validated | European Centre for Disease prevention and Control 2013-2017[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.9 / 100 000 | Poland | Value and class | Validated | European Centre for Disease prevention and Control 2013-2017[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.4 / 100 000 | Portugal | Value and class | Validated | European Centre for Disease prevention and Control 2013-2017[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.5 / 100 000 | Romania | Value and class | Validated | European Centre for Disease prevention and Control 2013-2017[OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 / 100 000 | Sweden | Value and class | Validated | European Centre for Disease prevention and Control 2013-2017[OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 / 100 000 | Germany | Value and class | Validated | European Centre for Disease prevention and Control 2013-2017[OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.8 / 100 000 | Spain | Value and class | Validated | European Centre for Disease prevention and Control 2013-2017[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 26.6 / 100 000 | Bulgaria | Value and class | Validated | European Centre for Disease prevention and Control 2013-2017[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
46 annotations · validated 2023-10-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001978 | Extramedullary hematopoiesis | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0001789 | Hydrops fetalis | |
| HP:0006267 | Large placenta | |
| HP:0040186 | Maculopapular exanthema | |
| HP:0040188 | Osteochondrosis | |
| HP:0040165 | Periostitis | |
| HP:0000967 | Petechiae | |
| HP:0001622 | Premature birth | |
| HP:0000979 | Purpura | |
| HP:0001873 | Thrombocytopenia | |
| Occasional (29-5%) | ||
| HP:0001903 | Anemia | |
| HP:0012229 | CSF pleocytosis | |
| HP:0000518 | Cataract | |
| HP:0012424 | Chorioretinitis | |
| HP:0002014 | Diarrhea | |
| HP:0002007 | Frontal bossing | |
| HP:0000501 | Glaucoma | |
| HP:0000365 | Hearing impairment | |
| HP:0000218 | High palate | |
| HP:0430028 | Hyperplasia of the maxilla | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000491 | Keratitis | |
| HP:0002716 | Lymphadenopathy | |
| HP:0002024 | Malabsorption | |
| HP:0011092 | Mulberry molar | |
| HP:0012819 | Myocarditis | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0012413 | Notched primary central incisor | |
| HP:0025524 | Palmoplantar scaling skin | |
| HP:0001733 | Pancreatitis | |
| HP:0002090 | Pneumonia | |
| HP:0006579 | Prolonged neonatal jaundice | |
| HP:0012384 | Rhinitis | |
| HP:0033782 | Semilunar tooth | |
| HP:0100769 | Synovitis | |
| HP:0000554 | Uveitis | |
| Very rare (<4-1%) | ||
| HP:0011120 | Concave nasal ridge | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0000238 | Hydrocephalus | |
| HP:0001943 | Hypoglycemia | |
| HP:0001287 | Meningitis | |
| HP:0000648 | Optic atrophy | |
| HP:0001250 | Seizure | |
| HP:0002982 | Tibial bowing | |
Annotation source: 37628309[PMID]_29627075[PMID]_30725772[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/499009
- This record as JSON: /data/d/499009.json