ORPHA:7
3C syndrome
Also known as: Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
377
79.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,247
Distinct authors in sample
Gene link
VPS35L
Limited
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019078
- MeSH:C535313
- UMLS:C0796137
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.”
2/6 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.
- Gene identifiedPresent
Limited — VPS35L
- LiteraturePresent
377 matched papers (208 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
377
377 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
377 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).
208 in the last 10 years · medium confidence · 79.4th percentile (publications denominator)
Phrase hits: 377 · MeSH hits: 0
Who's working on it?
1,247
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.
- 01Kato K9 papers · 2025
School of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol, United Kingdom.
Papers in Europe PMC - 02Cullen PJ8 papers · 2025
School of Biochemistry, Biomedical Sciences Building, University of Bristol, Bristol, UK. pete.cullen@bristol.ac.uk.
Papers in Europe PMC - 03Avedillo L7 papers · 2026
Research Group GIMCAD 971005-UCM, Departmental Section of Anatomy and Embryology, School of Veterinary Medicine, Universidad Complutense de Madrid, 28040 Madrid, Spain.
Papers in Europe PMC - 04Martín-Alguacil N7 papers · 2026
Research Group GIMCAD 971005-UCM, Departmental Section of Anatomy and Embryology, School of Veterinary Medicine, Universidad Complutense de Madrid, 28040 Madrid, Spain.
Papers in Europe PMC - 05Saitoh S7 papers · 2025
Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, Japan.
Papers in Europe PMC - 06Collins BM6 papers · 2025
Centre for Cell Biology of Chronic Disease, Institute for Molecular Biosciences, The University of Queensland, SLCA, Australia. b.collins@imb.uq.edu.au.
Papers in Europe PMC - 07Healy MD6 papers · 2025
Centre for Cell Biology of Chronic Disease, Institute for Molecular Biosciences, The University of Queensland, SLCA, Australia.
Papers in Europe PMC - 08Heesom KJ6 papers · 2025
Proteomics Facility, School of Biochemistry, Biomedical Sciences Building, University of Bristol, BS8 1TD Bristol, UK.
Papers in Europe PMC - 09McNally KE6 papers · 2025
School of Biochemistry, Biomedical Sciences Building, University of Bristol, Bristol, UK.
Papers in Europe PMC - 10Zhang J6 papers · 2026
Department of Cardiovascular, Chengdu Millitary General Hospital, 270th Rongdu Road, Chengdu City 610083, China. nowwilson@yeah.net.
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
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 2026-07-26This 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"
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" OR "VPS35L"
Recall-expansion terms: VPS35L
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-26T12:03:41.034Z