ORPHA:53271
Muenke syndrome
Publications
375
Trials
0
Interventional, condition-specific
Researchers
1,049
Distinct authors in sample
Gene link
FGFR3
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and .
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011274
- MeSH:C537369
- OMIM:602849
- UMLS:C1864436
- NCIT:C84904
Additional Mondo synonyms (7)
FGFR3-related craniosynostosis · MNKES · craniosynostosis - dysmorphism - brachydactyly · craniosynostosis brachydactyly · craniosynostosis with facial dysmorphism and brachydactyly syndrome · craniosynostosis-dysmorphism-brachydactyly syndrome · glass-chapman-hockley 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
Definitive — FGFR3
- LiteraturePresent
375 matched papers (232 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?
Yes — we know a specific gene responsible (FGFR3).
GenCC classification: Definitive.
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?
375
375 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.
375 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).
232 in the last 10 years · low confidence
Phrase hits: 375 · MeSH hits: 13
Who's working on it?
1,049
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.
- 01Muenke M14 papers · 2021
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, NIH, MSC 3717, Building 35, Room 1B-207, Bethesda, MD 20892, USA.
Papers in Europe PMC - 02Mathijssen IMJ13 papers · 2026
Department of Plastic, Reconstructive Surgery and Hand Surgery, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands.
Papers in Europe PMC - 03Agochukwu NB9 papers · 2015
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, MSC 3717, Building 35, Room 1B-207, Bethesda, MD 20892, USA.
Papers in Europe PMC - 04Bartlett SP8 papers · 2025
Division of Plastic Surgery, Hospital of the University of Pennsylvania, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Papers in Europe PMC - 05Mathijssen IM8 papers · 2022
Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, the Netherlands.
Papers in Europe PMC - 06Solomon BD7 papers · 2014
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, NIH, MSC 3717, Building 35, Room 1B-207, Bethesda, MD 20892, USA.
Papers in Europe PMC - 07Taylor JA6 papers · 2025
Division of Plastic Surgery, Hospital of the University of Pennsylvania, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: taylorj5@email.chop.edu.
Papers in Europe PMC - 08Wolvius EB6 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 - 09Choi 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 - 10Kruszka P5 papers · 2021
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
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. 2 observational studies 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
2 observational studies match 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.
Recruiting or not-yet-recruiting
- NCT07535372·NOT YET RECRUITING·ASO Treatment for Syndromic Craniosynostoses
Conditions: Craniosynostoses · Crouzon Syndrome · Saethre Chotzen Syndrome · Muenke Syndrome·Matched via name + MeSH
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.
"Muenke syndrome" OR "FGFR3-related craniosynostosis" OR "MNKES" OR "craniosynostosis - dysmorphism - brachydactyly" OR "craniosynostosis brachydactyly" OR "craniosynostosis with facial dysmorphism and brachydactyly syndrome" OR "craniosynostosis-dysmorphism-brachydactyly syndrome" OR "glass-chapman-hockley syndrome"
MeSH descriptor terms unioned into the query: Muenke Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Muenke syndrome" OR "FGFR3-related craniosynostosis" OR "MNKES" OR "craniosynostosis - dysmorphism - brachydactyly" OR "craniosynostosis brachydactyly" OR "craniosynostosis with facial dysmorphism and brachydactyly syndrome" OR "craniosynostosis-dysmorphism-brachydactyly syndrome" OR "glass-chapman-hockley syndrome"
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- "craniosynostosis-dysmorphism-brachydactyly syndrome" also appears on ORPHA:1535
- "glass-chapman-hockley syndrome" also appears on ORPHA:1535
Ingested 2026-07-27T00:51:04.695Z