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ORPHA:1340

Cardiofaciocutaneous syndrome

low confidenceDisorder

Also known as: CFC syndrome

Publications

28,352

Trials

1

Interventional, condition-specific

Researchers

1,325

Distinct authors in sample

Gene link

BRAF, KRAS, MAP2K1

Definitive

Readiness

5/6

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.”

5/6 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

    28,352 matched papers (18,580 in last 10 years) Source

  3. Phenotype characterisedPresent

    272 HPO annotations (e.g. Anteverted nares; Intellectual disability; Hypotonia) Source

  4. Animal modelPresent

    7 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov (1 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)

272

Associated phenotypes · MONDO:0015280

  • Anteverted nares
  • Intellectual disability
  • Hypotonia
  • Global developmental delay
  • Abnormal heart valve morphology

Showing 5 of 272 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

Model associations linked to this Mondo ID

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

28,352

28,352 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.

28,352 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).

18,580 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?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

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).

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 Cardiofaciocutaneous syndrome — 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.

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

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"

Interventional trials matched via: 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: 1 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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 (28352) 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