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ORPHA:1466

COFS syndrome

low confidenceSubtype of disorder

Also known as: Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

Publications

9,461

Trials

0

Interventional, condition-specific

Researchers

1,431

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.

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 (4)

COFS · Cerebro Oculo Facio Skeletal Syndrome · cerebro-oculo-facio-skeletal syndrome · cerebrooculofacioskeletal 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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    9,461 matched papers (8,877 in last 10 years) Source

  3. Phenotype characterisedPresent

    179 HPO annotations (e.g. Delayed eruption of teeth; Flexion contracture; Profound intellectual disability) Source

  4. Animal modelPresent

    4 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 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?

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

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

Phenotypes (Monarch / HPO)

179

Associated phenotypes · MONDO:0008926

  • Delayed eruption of teeth
  • Flexion contracture
  • Profound intellectual disability
  • Hypotonia
  • Nystagmus

Showing 5 of 179 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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?

9,461

9,461 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.

9,461 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).

8,877 in the last 10 years · low confidence

Phrase hits: 387 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,431

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
    Laugel V12 papers · 2022

    Laboratory of Medical Genetics, University of Strasbourg, 11 rue Humann, 67000, Strasbourg, France. Vincent.LAUGEL@chru-strasbourg.fr.

    Papers in Europe PMC
  2. 02
    Niedernhofer LJ8 papers · 2025

    the Department of Microbiology and Molecular Genetics and Cancer Institute, Hillman Cancer Center, University of Pittsburgh, Pittsburgh, Pennsylvania 15213-1863.

    Papers in Europe PMC
  3. 03
    Emmert S6 papers · 2022

    Clinic and Policlinic for Dermatology and Venereology, University Medical Centre Rostock, Strempelstrasse 13, 18057, Rostock, Germany. steffen.emmert@med.uni-rostock.de.

    Papers in Europe PMC
  4. 04
    Jaspers NG6 papers · 2015

    Department of Genetics, Erasmus Medical Center, Rotterdam, The Netherlands. n.jaspers@erasmusmc.nl

    Papers in Europe PMC
  5. 05
    Vermeulen W6 papers · 2024

    Department of Molecular Genetics, , , , ,

    Papers in Europe PMC
  6. 06
    Calmels N5 papers · 2022

    Université de Strasbourg, 67404, Illkirch, France.

    Papers in Europe PMC
  7. 07
    Obringer C5 papers · 2022

    Université de Strasbourg, 67404, Illkirch, France.

    Papers in Europe PMC
  8. 08
    Dollfus H4 papers · 2013

    Faculté de Médecine, Université de Strasbourg, Strasbourg, France6Service de Génétique Médicale, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

    Papers in Europe PMC
  9. 09
    Hoeijmakers JH4 papers · 2015

    the Department of Genetics, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands.

    Papers in Europe PMC
  10. 10
    Lans H4 papers · 2024

    Department of Molecular Genetics, , , , ,

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

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.

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 COFS 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.

("COFS syndrome" OR "Cerebrooculofacioskeletal syndrome" OR "Pena-Shokeir syndrome type 2" OR "Cerebro Oculo Facio Skeletal Syndrome" OR "cerebro-oculo-facio-skeletal syndrome") OR ("COFS" OR "COFS-related")

Run this search on Europe PMC

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

"COFS syndrome" OR "Cerebrooculofacioskeletal syndrome" OR "Pena-Shokeir syndrome type 2" OR "Cerebro Oculo Facio Skeletal Syndrome" OR "cerebro-oculo-facio-skeletal syndrome"

Study-type breakdown: 0 interventional · 0 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: COFS

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 (9461) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T17:28:44.490Z