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ORPHA:1340

Cardiofaciocutaneous syndrome

low confidenceDisorder

Also known as: CFC syndrome

Publications

1,381

Trials

5

Interventional, condition-specific

Researchers

1,325

Distinct authors in sample

Gene link

BRAF, KRAS, MAP2K1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, multiple anomalies syndrome characterized by craniofacial dysmorphology, heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), neurological manifestations (, ), and .

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

CFC · cardiofaciocutaneous (CFC) syndrome · cardiofaciocutaneous syndrome

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 identifiedPresent

    Definitive — BRAF, KRAS, MAP2K1, MAP2K2, NRAS…

  2. LiteraturePresent

    1,381 matched papers (801 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    5 matched on ClinicalTrials.gov (3 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?

Yes — we know a specific gene responsible (BRAF, KRAS, MAP2K1…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

1,381

1,381 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

1,381 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

801 in the last 10 years · low confidence

Phrase hits: 1,381 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,325

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
    Tartaglia M8 papers · 2025

    Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

    Papers in Europe PMC
  2. 02
    Zenker M8 papers · 2024

    Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

    Papers in Europe PMC
  3. 03
    Leoni C7 papers · 2025

    Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, Rome, Italy.

    Papers in Europe PMC
  4. 04
    Pierpont EI6 papers · 2026

    Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA.

    Papers in Europe PMC
  5. 05
    Rauen KA6 papers · 2026

    Department of Pediatrics, University of California Davis, Sacramento, California, USA.

    Papers in Europe PMC
  6. 06
    Stewart DR6 papers · 2026

    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, Maryland, USA.

    Papers in Europe PMC
  7. 07
    Kim J5 papers · 2026

    Emotion, Cognition and Behavior Research Group, Korea Brain Research Institute, Daegu, Republic of Korea.

    Papers in Europe PMC
  8. 08
    Aoki Y4 papers · 2025

    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.

    Papers in Europe PMC
  9. 09
    Rogers DJ4 papers · 2026

    Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA.

    Papers in Europe PMC
  10. 10
    Stevenson DA4 papers · 2026

    Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, California, United States.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 27 July 2026

5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).

low confidence · 87.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

3 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

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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.

"Cardiofaciocutaneous syndrome" OR "CFC syndrome" OR "cardiofaciocutaneous (CFC) syndrome"

Run this search on Europe PMC

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

"Cardiofaciocutaneous syndrome" OR "CFC syndrome" OR "cardiofaciocutaneous (CFC) syndrome" OR "MAP2K1" OR "MAP2K2" OR "PTPN11"

Recall-expansion terms: MAP2K1, MAP2K2, PTPN11

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

Study-type breakdown: 5 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CFC

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1381) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T17:07:04.600Z