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ORPHA:1520

Craniofrontonasal dysplasia

low confidenceDisorder

Also known as: CFND · CFNS · Craniofrontonasal syndrome

Publications

1,749

Trials

0

Interventional, condition-specific

Researchers

1,101

Distinct authors in sample

Gene link

EFNB1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare X-linked syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

Craniofrontonasal Dysplasia · craniofrontonasal dysplasia · craniofrontonasal dysplasia, X-linked dominant · craniofrontonasal 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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — EFNB1

  2. LiteraturePresent

    1,749 matched papers (1,112 in last 10 years) Source

  3. Phenotype characterisedPresent

    93 HPO annotations (e.g. 3-4 finger cutaneous syndactyly; Abnormality of the dentition; Toe syndactyly) Source

  4. Animal modelPresent

    1 genotype model (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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (EFNB1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

93

Associated phenotypes · MONDO:0010570

  • 3-4 finger cutaneous syndactyly
  • Abnormality of the dentition
  • Toe syndactyly
  • Split nail
  • Fragile nails

Showing 5 of 93 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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?

1,749

1,749 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=3967) is 59.

1,749 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).

1,112 in the last 10 years · low confidence

Phrase hits: 408 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,101

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

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Wieland I9 papers · 2015

    Institut für Humangenetik, Otto-von-Guericke-Universität, Magdeburg, Germany. ilse.wieland@medizin.uni-magdeburg.de

    Papers in Europe PMC
  2. 02
    Bush JO7 papers · 2020

    Department of Cell and Tissue Biology, Program in Craniofacial Biology and Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143 jeffrey.bush@ucsf.edu.

    Papers in Europe PMC
  3. 03
    Wieacker P7 papers · 2008

    Institut für Humangenetik, Otto-von-Guericke-Universität, Leipziger Str. 44, D-39120 Magdeburg, Germany. peter.wieacker@medizin.uni-magdeburg.de

    Papers in Europe PMC
  4. 04
    Niethamer TK5 papers · 2020

    Department of Cell and Tissue Biology, Program in Craniofacial Biology and Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143.

    Papers in Europe PMC
  5. 05
    Pleumeekers MM5 papers · 2025

    Department of Plastic and Reconstructive Surgery, Erasmus MC, University Medical Center, 3000 CA Rotterdam, The Netherlands.

    Papers in Europe PMC
  6. 06
    Rostamzad P5 papers · 2025

    Department of Plastic and Reconstructive Surgery, Erasmus MC, University Medical Center, 3000 CA Rotterdam, The Netherlands.

    Papers in Europe PMC
  7. 07
    Wilkie AO5 papers · 2017

    Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

    Papers in Europe PMC
  8. 08
    Johnson D4 papers · 2020

    Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

    Papers in Europe PMC
  9. 09
    Loudon SE4 papers · 2024

    Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.

    Papers in Europe PMC
  10. 10
    Mathijssen IM4 papers · 2017

    Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus Medical Centre, University Medical Centre Rotterdam, Rotterdam, The Netherlands.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Observational and natural-history studies

1 observational study matches 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.

None of the matched observational studies is currently listed as 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 Craniofrontonasal dysplasia — 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.

("Craniofrontonasal dysplasia" OR "Craniofrontonasal syndrome" OR "craniofrontonasal dysplasia, X-linked dominant") OR ("EFNB1" OR "EFNB1 syndrome" OR "EFNB1-related")

Run this search on Europe PMC

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

"Craniofrontonasal dysplasia" OR "Craniofrontonasal syndrome" OR "craniofrontonasal dysplasia, X-linked dominant"

Study-type breakdown: 0 interventional · 1 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: CFND; CFNS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1749) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T17:37:35.256Z