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ORPHA:499009

Congenital syphilis

high confidenceDisorder

Also known as: MTCT of syphilis · Mother-to-child transmission of syphilis

Publications

9,770

91.8th percentile

Trials

6

Interventional, condition-specific

Researchers

1,102

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare teratologic disease caused by vertical transmission of the spirochete Treponema pallidum from an infected mother to the fetus, characterized by early syphilis during the first two years of life (maculopapular rash progressing to desquamation, , osteochondritis, snuffles, and iritis), followed by late 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, , and mental retardation. syphilis can also result in stillbirth, death, and nonimmune hydrops.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

congenital syphilis · mother-to-child transmission of syphilis

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    9,770 matched papers (2,808 in last 10 years) Source

  3. Phenotype characterisedPresent

    55 HPO annotations (e.g. Hydrocephalus; Meningitis; Intellectual disability) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    6 matched on ClinicalTrials.gov (4 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

55

Associated phenotypes · MONDO:0005714

  • Hydrocephalus
  • Meningitis
  • Intellectual disability
  • Hepatosplenomegaly
  • Seizure

Showing 5 of 55 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

5

Drugs / clinical candidates · MONDO_0005714

CTD chemicals (MyDisease.info)

1 associated chemical. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Cocaine · marker/mechanism

MyDisease.info · MONDO:0005714

Literature

Is anyone studying this?

9,770

9,770 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

9,770 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

2,808 in the last 10 years · high confidence · 91.8th percentile (publications denominator)

Phrase hits: 9,766 · MeSH hits: 31

Open Europe PMC search

Who's working on it?

1,102

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Klausner JD6 papers · 2026

    Chrysovalantis Stafylis and Jeffrey D. Klausner are with the Department of Population & Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles.

    Papers in Europe PMC
  2. 02
    Stafford IA5 papers · 2026

    Chad J. Abresch, Regan M. Johnson, Kayode Olabanji, and Ashleigh M. Sutphen are with the Department of Health Promotion, College of Public Health, University of Nebraska Medical Center, Omaha. Irene A. Stafford is with the Department of Obstetrics, Gynecology, and Reproductive Sciences, Division of Maternal‒Fetal Medicine, McGovern Medical School at UTHealth, Houston. Helen E. Cejtin is with the Department of Obstetrics and Gynecology, Feinberg School of Medicine, Northwestern University, Chicago, IL. Ashley Hoover is with The Raven Collective, Multnomah County, Grayslake, IL.

    Papers in Europe PMC
  3. 03
    Zhang X5 papers · 2026

    Department of Laboratorial Science and Technology & Vaccine Research Center, School of Public Health, Peking University, Beijing, P. R. China.

    Papers in Europe PMC
  4. 04
    Barr-DiChiara M4 papers · 2026

    Global HIV, Hepatitis and STI Programmes, World Health Organization, Geneva, Switzerland.

    Papers in Europe PMC
  5. 05
    Chen Y4 papers · 2025

    Institute of Vaccine Clinical Trial Assessment, Jiangsu Provincial Center for Disease Control and Prevention, Nanjing, China.

    Papers in Europe PMC
  6. 06
    Chetty A4 papers · 2026

    Office to the African Region, World Health Organization, Pretoria, South Africa.

    Papers in Europe PMC
  7. 07
    Huang Y4 papers · 2025

    Department of Epidemiology, School of Public Health, Nanjing Medical University, Nanjing, China.

    Papers in Europe PMC
  8. 08
    Johnson CC4 papers · 2026

    Global HIV, Hepatitis and STI Programmes, World Health Organization, Geneva, Switzerland.

    Papers in Europe PMC
  9. 09
    Li J4 papers · 2025

    Department of Public Health Surveillance and Advisory, Zhejiang Provincial Center for Disease Control and Prevention, Hangzhou, Zhejiang Province, China.

    Papers in Europe PMC
  10. 10
    Li Y4 papers · 2026

    Department of Epidemiology, School of Public Health, Shanxi Medical University, Taiyuan, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; 4 currently recruiting in our sample. 87 trials are registered for syphilis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).

high confidence · 90.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

6 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: syphilis

87

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

4 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 8 · after dedupe 8 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 8 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (8)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Congenital syphilis — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Congenital syphilis" OR "MTCT of syphilis" OR "MTCT of the syphilis" OR "Mother-to-child transmission of syphilis" OR "Mother-to-child transmission of the syphilis"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Syphilis, Congenital

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Congenital syphilis" OR "MTCT of syphilis" OR "MTCT of the syphilis" OR "Mother-to-child transmission of syphilis" OR "Mother-to-child transmission of the syphilis" OR "Syphilis, Congenital"

Interventional trials matched via: both, phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 6 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"syphilis"

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T17:39:54.273Z