ORPHA:1540
Jackson-Weiss syndrome
Also known as: Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome · JWS
Publications
171
60.3th percentile
Trials
0
Interventional, condition-specific
Researchers
1,009
Distinct authors in sample
Gene link
FGFR1, FGFR2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.
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:0007400
- MeSH:C537559
- OMIM:123150
- UMLS:C0795998
- NCIT:C123814
Additional Mondo synonyms (1)
craniosynostosis-midfacial hypoplasia-foot abnormalities 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 — FGFR1, FGFR2
- LiteraturePresent
171 matched papers (71 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 (FGFR1, FGFR2).
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?
171
171 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.
171 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).
71 in the last 10 years · medium confidence · 60.3th percentile (publications denominator)
Phrase hits: 171 · MeSH hits: 0
Who's working on it?
1,009
Distinct author names in 171 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.
- 01Jabs EW7 papers · 2014
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1497, New York, NY 10029-6574, USA.
Papers in Europe PMC - 02Wilkie AO6 papers · 2002
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK.
Papers in Europe PMC - 03Winter RM6 papers · 2000Papers in Europe PMC
- 04Muenke M5 papers · 2014
Department of Pediatrics, University of Pennsylvania, Philadelphia, USA. muenke@mail.med.upenn.edu
Papers in Europe PMC - 05Ornitz DM5 papers · 2015
Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO, USA.
Papers in Europe PMC - 06Reardon W5 papers · 2000
Department of Clinical Genetics, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
Papers in Europe PMC - 07Cohen MM Jr4 papers · 2001
Division of Oral and Maxillofacial Pathology, Faculty of Dentistry and Department of Pediatrics, Faculty of Medicine, Dalhousie University Halifax, Nova Scotia, B3H 3J5, Canada.
Papers in Europe PMC - 08Li X4 papers · 2013
Department of Orthopedic Surgery, Orthopedic Trauma Institute, San Francisco General Hospital, University of California, San Francisco, CA, USA.
Papers in Europe PMC - 09Liu Y4 papers · 2023
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.
Papers in Europe PMC - 10Malcolm S4 papers · 2000Papers 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.
"Jackson-Weiss syndrome" OR "Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Jackson-Weiss syndrome" OR "Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome"
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
Synonyms dropped by stoplist: JWS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T17:40:20.598Z