Congenital syphilis
diseaseOn this page
Also known as mother-to-child transmission of syphilisMTCT of syphilis
Summary
Congenital syphilis (MONDO:0005714) is a disease and 4 clinical trials. Top therapeutic interventions include penicillin g benzathine. A subtype of syphilis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
- Phenotypes (HPO): 46
- Clinical trials: 4
Clinical features
Epidemiology
Prevalence records
17 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.3 | Europe | Validated |
| Prevalence at birth | 1-9 / 100 000 | 1.3 | Europe | Validated |
| Point prevalence | 1-5 / 10 000 | 15.7 | United States | Validated |
| Prevalence at birth | 1-5 / 10 000 | 15.7 | United States | Validated |
| Prevalence at birth | 1-5 / 10 000 | 26.6 | Bulgaria | Validated |
| Prevalence at birth | 1-9 / 100 000 | 1.3 | Czech Republic | Validated |
| Prevalence at birth | 1-9 / 100 000 | 1.04 | Denmark | Validated |
| Prevalence at birth | 1-9 / 100 000 | 1.1 | Greece | Validated |
| Prevalence at birth | 1-9 / 100 000 | 1.7 | Hungary | Validated |
| Prevalence at birth | 1-9 / 100 000 | 1.1 | Italy | Validated |
| Prevalence at birth | 1-9 / 100 000 | 4.6 | Lithuania | Validated |
| Prevalence at birth | 1-9 / 100 000 | 1.9 | Poland | Validated |
| Prevalence at birth | 1-9 / 100 000 | 5.4 | Portugal | Validated |
| Prevalence at birth | 1-9 / 100 000 | 2.5 | Romania | Validated |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 | Sweden | Validated |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 | Germany | Validated |
| Prevalence at birth | 1-9 / 1 000 000 | 0.8 | Spain | Validated |
Signs & symptoms
Clinical features (HPO)
46 HPO clinical features (Orphanet curated; top 46 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000967 | Petechiae | Frequent (30-79%) |
| HP:0000979 | Purpura | Frequent (30-79%) |
| HP:0001433 | Hepatosplenomegaly | Frequent (30-79%) |
| HP:0001622 | Premature birth | Frequent (30-79%) |
| HP:0001789 | Hydrops fetalis | Frequent (30-79%) |
| HP:0001873 | Thrombocytopenia | Frequent (30-79%) |
| HP:0001978 | Extramedullary hematopoiesis | Frequent (30-79%) |
| HP:0006267 | Large placenta | Frequent (30-79%) |
| HP:0040165 | Periostitis | Frequent (30-79%) |
| HP:0040186 | Maculopapular exanthema | Frequent (30-79%) |
| HP:0040188 | Osteochondrosis | Frequent (30-79%) |
| HP:0000100 | Nephrotic syndrome | Occasional (5-29%) |
| HP:0000218 | High palate | Occasional (5-29%) |
| HP:0000365 | Hearing impairment | Occasional (5-29%) |
| HP:0000491 | Keratitis | Occasional (5-29%) |
| HP:0000501 | Glaucoma | Occasional (5-29%) |
| HP:0000518 | Cataract | Occasional (5-29%) |
| HP:0000554 | Uveitis | Occasional (5-29%) |
| HP:0001511 | Intrauterine growth retardation | Occasional (5-29%) |
| HP:0001733 | Pancreatitis | Occasional (5-29%) |
| HP:0001903 | Anemia | Occasional (5-29%) |
| HP:0002007 | Frontal bossing | Occasional (5-29%) |
| HP:0002014 | Diarrhea | Occasional (5-29%) |
| HP:0002024 | Malabsorption | Occasional (5-29%) |
| HP:0002090 | Pneumonia | Occasional (5-29%) |
| HP:0002716 | Lymphadenopathy | Occasional (5-29%) |
| HP:0006579 | Prolonged neonatal jaundice | Occasional (5-29%) |
| HP:0011092 | Mulberry molar | Occasional (5-29%) |
| HP:0012229 | CSF pleocytosis | Occasional (5-29%) |
| HP:0012384 | Rhinitis | Occasional (5-29%) |
| HP:0012413 | Notched primary central incisor | Occasional (5-29%) |
| HP:0012424 | Chorioretinitis | Occasional (5-29%) |
| HP:0012758 | Neurodevelopmental delay | Occasional (5-29%) |
| HP:0012819 | Myocarditis | Occasional (5-29%) |
| HP:0025524 | Palmoplantar scaling skin | Occasional (5-29%) |
| HP:0033782 | Semilunar tooth | Occasional (5-29%) |
| HP:0100769 | Synovitis | Occasional (5-29%) |
| HP:0430028 | Hyperplasia of the maxilla | Occasional (5-29%) |
| HP:0000238 | Hydrocephalus | Very rare (<1-4%) |
| HP:0000648 | Optic atrophy | Very rare (<1-4%) |
| HP:0001250 | Seizure | Very rare (<1-4%) |
| HP:0001287 | Meningitis | Very rare (<1-4%) |
| HP:0001943 | Hypoglycemia | Very rare (<1-4%) |
| HP:0002982 | Tibial bowing | Very rare (<1-4%) |
| HP:0006824 | Cranial nerve paralysis | Very rare (<1-4%) |
| HP:0011120 | Concave nasal ridge | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | congenital syphilis |
| Mondo ID | MONDO:0005714 |
| EFO | EFO:0007219 |
| MeSH | D013590 |
| Orphanet | 499009 |
| DOID | DOID:9856 |
| ICD-10-CM | A50 |
| ICD-11 | 587996426 |
| NCIT | C84649 |
| SNOMED CT | 35742006 |
| UMLS | C0039131 |
| MedGen | 52622 |
| GARD | 0022036 |
| NORD | 1753 |
| Is cancer (heuristic) | no |
Also known as: congenital syphilis · mother-to-child transmission of syphilis · MTCT of syphilis
Disease family
This is a subtype of syphilis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by etiologic mechanism › disease of primarily extrinsic mechanism › infectious disease › bacterial infectious disease › primary bacterial infectious disease › syphilis › congenital syphilis
Related subtypes (9): bejel, primary syphilis, secondary syphilis, tertiary syphilis, latent syphilis, yaws, cutaneous syphilis, syphilitic aortitis, chancre
Subtypes (2): early congenital syphilis, late congenital syphilis
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 4.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 3 |
| PHASE2 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT07189208 | PHASE2 | RECRUITING | Evaluation of Antimicrobial Prophylaxis to Prevent Syphilis in Pregnancy in Patients at Risk in Rio de Janeiro, Brazil |
| NCT02353117 | Not specified | COMPLETED | Preventing Congenital Syphilis |
| NCT03814096 | Not specified | WITHDRAWN | Point-Of-Care Testing for Congenital Syphilis in Mothers and Newborns |
| NCT05975502 | Not specified | COMPLETED | Congenital Syphilis in Switzerland |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| PENICILLIN G BENZATHINE | 4 | 1 |
Related Atlas pages
- Drugs: Penicillin G Benzathine