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ORPHA:7

3C syndrome

low confidenceDisorder

Also known as: Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

Publications

504

Trials

0

Interventional, condition-specific

Researchers

1,330

Distinct authors in sample

Gene link

VPS35L

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Cranio-cerebello-cardiac (3C) syndrome is a rare multiple anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker , cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.

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 (2)

CCC dysplasia · craniocerebellocardiac dysplasia

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Limited — VPS35L

  2. LiteraturePresent

    504 matched papers (327 in last 10 years) Source

  3. Phenotype characterisedPresent

    213 HPO annotations (e.g. Generalized hypotonia; Hydrocephalus; Broad forehead) 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 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?

Possibly — only limited evidence so far for VPS35L.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

213

Associated phenotypes · MONDO:0019078

  • Generalized hypotonia
  • Hydrocephalus
  • Broad forehead
  • Downslanted palpebral fissures
  • Posterior fossa cyst

Showing 5 of 213 — 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

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?

504

504 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.

504 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).

327 in the last 10 years · low confidence

Phrase hits: 377 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,330

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
    Cullen PJ14 papers · 2025

    School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, United Kingdom.

    Papers in Europe PMC
  2. 02
    Collins BM12 papers · 2025

    The University of Queensland, Institute for Molecular Bioscience, St Lucia, QLD 4072, Australia.

    Papers in Europe PMC
  3. 03
    Billadeau DD11 papers · 2025

    Division of Oncology Research, College of Medicine, Mayo Clinic, Rochester, MN 55905, USA.

    Papers in Europe PMC
  4. 04
    Burstein E11 papers · 2025

    Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

    Papers in Europe PMC
  5. 05
    Heesom KJ11 papers · 2025

    Bristol Proteomics Facility, School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol BS8 1TD, United Kingdom.

    Papers in Europe PMC
  6. 06
    Chen B9 papers · 2025

    Roy J. Carver Department of Biochemistry, Biophysics and Molecular Biology, Iowa State University, Ames, Iowa.

    Papers in Europe PMC
  7. 07
    Kato K9 papers · 2025

    School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol, United Kingdom.

    Papers in Europe PMC
  8. 08
    Singla A9 papers · 2025

    Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

    Papers in Europe PMC
  9. 09
    Healy MD8 papers · 2025

    , Institute for Molecular Bioscience, St Lucia, , ,

    Papers in Europe PMC
  10. 10
    Lewis PA8 papers · 2025

    Bristol Proteomics Facility, School of Biochemistry, Faculty of Life Sciences, Biomedical Sciences Building, , ,

    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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · 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).

Uncertain / not reviewed (4)

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 3C 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.

("3C syndrome" OR "Craniocerebellocardiac dysplasia" OR "Ritscher-Schinzel syndrome" OR "CCC dysplasia") OR ("VPS35L" OR "VPS35L syndrome" OR "VPS35L-related")

Run this search on Europe PMC

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

"3C syndrome" OR "Craniocerebellocardiac dysplasia" OR "Ritscher-Schinzel syndrome" OR "CCC dysplasia"

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

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (504) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T12:03:41.034Z