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ORPHA:1540

Jackson-Weiss syndrome

medium confidenceDisorder

Also known as: Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome · JWS

Publications

171

52.5th percentile

Trials

0

Interventional, condition-specific

Researchers

1,009

Distinct authors in sample

Gene link

FGFR1, FGFR2

Definitive

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 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.

  1. Gene identifiedPresent

    Definitive — FGFR1, FGFR2

  2. LiteraturePresent

    171 matched papers (71 in last 10 years) Source

  3. Phenotype characterisedPresent

    36 HPO annotations (e.g. Broad distal phalanx of the hallux; Coronal craniosynostosis; Malar flattening) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

36

Associated phenotypes · MONDO:0007400

  • Broad distal phalanx of the hallux
  • Coronal craniosynostosis
  • Malar flattening
  • 2-3 toe syndactyly
  • Midface retrusion

Showing 5 of 36 — 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?

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=3967) is 59.

171 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).

71 in the last 10 years · medium confidence · 52.5th percentile (publications denominator)

Phrase hits: 171 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Jabs 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
  2. 02
    Wilkie AO6 papers · 2002

    Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK.

    Papers in Europe PMC
  3. 03
    Winter RM6 papers · 2000
    Papers in Europe PMC
  4. 04
    Muenke M5 papers · 2014

    Department of Pediatrics, University of Pennsylvania, Philadelphia, USA. muenke@mail.med.upenn.edu

    Papers in Europe PMC
  5. 05
    Ornitz DM5 papers · 2015

    Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO, USA.

    Papers in Europe PMC
  6. 06
    Reardon W5 papers · 2000

    Department of Clinical Genetics, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

    Papers in Europe PMC
  7. 07
    Cohen 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
  8. 08
    Li 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
  9. 09
    Liu Y4 papers · 2023

    Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.

    Papers in Europe PMC
  10. 10
    Malcolm S4 papers · 2000
    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 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.

medium 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 2026-07-29

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 Jackson-Weiss syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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"

Run this search on Europe PMC

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