ORPHA:1308
C syndrome
Also known as: OTCS · Opitz C trigonocephaly · Opitz trigonocephaly C syndrome · Opitz trigonocephaly syndrome · Trigonocephaly C syndrome
Publications
385
Trials
0
Interventional, condition-specific
Researchers
1,448
Distinct authors in sample
Gene link
CD96
Limited
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
C syndrome is a rare multiple anomaly/ syndrome characterized by trigonocephaly and metopic suture synostosis, facial features, short neck, skeletal anomalies, and variable .
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008893
- MeSH:C537418
- OMIM:211750
- UMLS:C0796095
Additional Mondo synonyms (1)
trigonocephaly C 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.”
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 — CD96
- LiteraturePresent
385 matched papers (182 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 CD96.
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?
385
385 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.
385 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).
182 in the last 10 years · low confidence
Phrase hits: 385 · MeSH hits: 0
Who's working on it?
1,448
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.
- 01Grinberg D8 papers · 2020
Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, 08028 Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, 28029 Madrid, Spain; Institut de Biomedicina de la Universitat de Barcelona, 08028 Barcelona, Spain. Electronic address: dgrinberg@ub.edu.
Papers in Europe PMC - 02Opitz JM8 papers · 2018
Pediatrics (Medical Genetics), Pathology, Obstetrics & Gynecology, and Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA. john.opitz@hsc.utah.edu
Papers in Europe PMC - 03Vilageliu L8 papers · 2020
Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, 08028 Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, 28029 Madrid, Spain; Institut de Biomedicina de la Universitat de Barcelona, 08028 Barcelona, Spain.
Papers in Europe PMC - 04Canals I5 papers · 2020
Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, 08028 Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras, 28029 Madrid, Spain; Institut de Biomedicina de la Universitat de Barcelona, 08028 Barcelona, Spain.
Papers in Europe PMC - 05Moore C5 papers · 2022
Wales Specialist Virology Centre, Public Health Wales Microbiology Cardiff, University Hospital of Wales, Cardiff, UK
Papers in Europe PMC - 06Benetó N4 papers · 2020
Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, CIBERER, IBUB, IRSJD, E-08028 Barcelona, Spain.
Papers in Europe PMC - 07Neri G4 papers · 2018
Istituto Genetica Medica, Università Cattolica Sacro Cuore, Policlínico A Gemelli, Roma, Italy.
Papers in Europe PMC - 08Atkinson S3 papers · 2013
Biomedical Sciences, University of Ulster, Coleraine, BT52 1SA
Papers in Europe PMC - 09Balcells S3 papers · 2018
Department of Genetics, Faculty of Biology, Universitat de Barcelona, CIBERER, IBUB, Barcelona, Spain.
Papers in Europe PMC - 10Breuer J3 papers · 2022
Infection, Immunity and Inflammation Department, GOS Institute of Child Health, University College London, London, UK
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 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.
low 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.
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.
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.
"C syndrome" OR "Opitz C trigonocephaly" OR "Opitz trigonocephaly C syndrome" OR "Opitz trigonocephaly syndrome" OR "Trigonocephaly C syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"C syndrome" OR "Opitz C trigonocephaly" OR "Opitz trigonocephaly C syndrome" OR "Opitz trigonocephaly syndrome" OR "Trigonocephaly C syndrome" OR "CD96"
Recall-expansion terms: CD96
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: OTCS
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
Ingested 2026-07-26T16:59:48.581Z