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ORPHA:376

Gordon syndrome

low confidenceDisorder

Also known as: Camptodactyly-cleft palate-clubfoot syndrome · Distal arthrogryposis type 3 · Distal arthrogryposis type IIA

Publications

3,768

Trials

0

Interventional, condition-specific

Researchers

1,191

Distinct authors in sample

Gene link

PIEZO2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple syndrome characterized by contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

camptodactyly-cleft palate-clubfoot syndrome · distal arthrogryposis type 3 · distal arthrogryposis type IIA

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 — PIEZO2

  2. LiteraturePresent

    3,768 matched papers (3,391 in last 10 years) Source

  3. Phenotype characterisedPresent

    49 HPO annotations (e.g. Camptodactyly of finger; Decreased muscle mass; Ulnar deviation of the hand or of fingers of the hand) 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 (PIEZO2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

49

Associated phenotypes · MONDO:0007252

  • Camptodactyly of finger
  • Decreased muscle mass
  • Ulnar deviation of the hand or of fingers of the hand
  • Lumbar hyperlordosis
  • Overlapping toe

Showing 5 of 49 — 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?

3,768

3,768 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.

3,768 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).

3,391 in the last 10 years · low confidence

Phrase hits: 509 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,191

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.

  1. 01
    McCormick JA4 papers · 2024

    Department of Medicine, Oregon Health and Science University, Portland, Oregon; and.

    Papers in Europe PMC
  2. 02
    Ellison DH3 papers · 2025

    Department of Medicine, Oregon Health and Science University, Portland, Oregon; and ellisond@ohsu.edu.

    Papers in Europe PMC
  3. 03
    Hu J3 papers · 2025

    Health and Rehabilitation College, Nanjing University of Chinese Medicine, Nanjing 210023, China.

    Papers in Europe PMC
  4. 04
    Li J3 papers · 2026

    Vascular Biology Center, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.

    Papers in Europe PMC
  5. 05
    Li L3 papers · 2026

    Brain Research Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, 510120, China. Lilu67@mail.sysu.edu.cn.

    Papers in Europe PMC
  6. 06
    Li X3 papers · 2026

    Cellular and Molecular Diagnostics Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, 510220, China.

    Papers in Europe PMC
  7. 07
    Lin Y3 papers · 2026

    Department of Biochemistry and Molecular Biology, Zhejiang Key Laboratory of Pathophysiology, Medical School of Ningbo University, 315211, Ningbo, China.

    Papers in Europe PMC
  8. 08
    O'Shaughnessy KM3 papers · 2023

    Division of Experimental Medicine and Immunotherapeutics, Department of Medicine, Addenbrooke's Hospital-University of Cambridge, Cambridge, CB2 2QQ UK. kmo22@medschl.cam.ac.uk.

    Papers in Europe PMC
  9. 09
    Raina R3 papers · 2025

    Akron Children's Hospital, Akron, Ohio, USA.

    Papers in Europe PMC
  10. 10
    Trepiccione F3 papers · 2019

    Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 970, Paris, France.

    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. 5 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.

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.

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

5 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

Open the complete matched search on ClinicalTrials.gov

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 12 · after dedupe 12 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 12 · 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).

Uncertain / not reviewed (12)

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 Gordon 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.

("Gordon syndrome" OR "Camptodactyly-cleft palate-clubfoot syndrome" OR "Distal arthrogryposis type 3" OR "Distal arthrogryposis type IIA") OR ("PIEZO2" OR "PIEZO2 syndrome" OR "PIEZO2-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Gordon syndrome" OR "Camptodactyly-cleft palate-clubfoot syndrome" OR "Distal arthrogryposis type 3" OR "Distal arthrogryposis type IIA"

Study-type breakdown: 0 interventional · 5 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

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (3768) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T13:37:33.131Z