ORPHA:672979
Craniosynostosis-facial dysmorphism-brachydactyly syndrome
Also known as: TCF12-related syndromic craniosynostosis
Publications
2,694
Trials
0
Interventional, condition-specific
Researchers
1,367
Distinct authors in sample
Gene link
TCF12
Definitive
Readiness
4/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014128
- OMIM:615314
- UMLS:C3715051
Additional Mondo synonyms (5)
TCF12 craniosynostosis · TCF12-related craniosynostosis · craniosynostosis 3 · craniosynostosis caused by mutation in TCF12 · craniosynostosis type 3
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — TCF12
- LiteraturePresent
2,694 matched papers (2,007 in last 10 years) Source
- Phenotype characterisedPresent
14 HPO annotations (e.g. Bicoronal synostosis; Left unicoronal synostosis; Strabismus) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPartial
None under the specific name; 16 for broader category craniosynostosis
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 (TCF12).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
14
Associated phenotypes · MONDO:0014128
- Bicoronal synostosis
- Left unicoronal synostosis
- Strabismus
- Brachydactyly
- Low anterior hairline
Showing 5 of 14 — 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?
2,694
2,694 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.
2,694 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).
2,007 in the last 10 years · low confidence
Phrase hits: 163 · MeSH hits: 0
Who's working on it?
1,367
Distinct author names in 163 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.
- 01Mathijssen IMJ8 papers · 2025
Chair of the working group Guideline Craniosynostosis, Department Plastic and Reconstructive Surgery and Hand Surgery, Erasmus Medical Center, Rotterdam, The Netherlands.
Papers in Europe PMC - 02Wolvius EB6 papers · 2025
Department of Maxillofacial Surgery, Erasmus Medical Center, Rotterdam, the Netherlands.
Papers in Europe PMC - 03Choi TM5 papers · 2025
Department of Oral Maxillofacial Surgery, Special Dental Care and Orthodontics, Dutch Craniofacial Center, Erasmus University Medical Center, Wytemaweg 80, 3015 CN, Rotterdam, the Netherlands. t.choi@erasmusmc.nl.
Papers in Europe PMC - 04Twigg SR5 papers · 2016
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK.
Papers in Europe PMC - 05Wall SA5 papers · 2019
Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK.
Papers in Europe PMC - 06Wilkie AO5 papers · 2016
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Headington, Oxford OX3 9DU, UK. Electronic address: andrew.wilkie@imm.ox.ac.uk.
Papers in Europe PMC - 07McGowan SJ4 papers · 2025
Computational Biology Research Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK.
Papers in Europe PMC - 08Ongkosuwito EM4 papers · 2025
Department of Oral Maxillofacial Surgery, Special Dental Care and Orthodontics, Dutch Craniofacial Center, Erasmus University Medical Center, Wytemaweg 80, 3015 CN, Rotterdam, the Netherlands.
Papers in Europe PMC - 09Rogers GF4 papers · 2022
Division of Plastic and Reconstructive Surgery, Children's National Health System, Washington DC, USA.
Papers in Europe PMC - 10
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). 16 trials are registered for craniosynostosis, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
16 interventional trials matched craniosynostosis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: craniosynostosis
16
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT07080528·ENROLLING BY INVITATION·Measuring of the Duration of Action of Different Doses of Rocuronium-induced Neuromuscular Block in Infants During Surgical Treatment of Craniosynostosis
Conditions: Neuromuscular Blocking Agents · Residual Neuromuscular Block · Neuromuscular Blockade Monitoring·Matched via name phrase
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 2026-07-30
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 Craniosynostosis-facial dysmorphism-brachydactyly syndrome — check Associations / patient organisations on that page.
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.
("Craniosynostosis-facial dysmorphism-brachydactyly syndrome" OR "TCF12-related syndromic craniosynostosis" OR "TCF12 craniosynostosis" OR "TCF12-related craniosynostosis" OR "craniosynostosis 3" OR "craniosynostosis caused by mutation in TCF12" OR "craniosynostosis type 3") OR ("TCF12" OR "TCF12 syndrome" OR "TCF12-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Craniosynostosis-facial dysmorphism-brachydactyly syndrome" OR "TCF12-related syndromic craniosynostosis" OR "TCF12 craniosynostosis" OR "TCF12-related craniosynostosis" OR "craniosynostosis 3" OR "craniosynostosis caused by mutation in TCF12" OR "craniosynostosis type 3"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"craniosynostosis"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (2694) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T20:18:15.774Z