ORPHA:376
Gordon syndrome
Also known as: Camptodactyly-cleft palate-clubfoot syndrome · Distal arthrogryposis type 3 · Distal arthrogryposis type IIA
Publications
509
87.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,191
Distinct authors in sample
Gene link
PIEZO2
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007252
- MeSH:C537288
- OMIM:114300
- UMLS:C0220666
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.”
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 — PIEZO2
- LiteraturePresent
509 matched papers (363 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 (PIEZO2).
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?
509
509 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=5449) is 41.
509 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).
363 in the last 10 years · medium confidence · 87.1th percentile (publications denominator)
Phrase hits: 509 · MeSH hits: 0
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.
- 01McCormick JA4 papers · 2024
Department of Medicine, Oregon Health and Science University, Portland, Oregon; and.
Papers in Europe PMC - 02Ellison DH3 papers · 2025
Department of Medicine, Oregon Health and Science University, Portland, Oregon; and ellisond@ohsu.edu.
Papers in Europe PMC - 03Hu J3 papers · 2025
Health and Rehabilitation College, Nanjing University of Chinese Medicine, Nanjing 210023, China.
Papers in Europe PMC - 04Li J3 papers · 2026
Vascular Biology Center, Medical College of Georgia, Augusta University, Augusta, GA 30912, USA.
Papers in Europe PMC - 05Li 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 - 06Li X3 papers · 2026
Cellular and Molecular Diagnostics Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, 510220, China.
Papers in Europe PMC - 07Lin 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 - 08O'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 - 09
- 10Trepiccione 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. 7 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.
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.
Observational and natural-history studies
7 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
- NCT06052631·RECRUITING·Microneurographic Assessment of Peripheral Nerves in Healthy Volunteers and Individuals With Sensory Dysfunction Caused by Inherited Mutations in the PIEZO2 Gene
Conditions: PIEZO2-Deficiency Syndrome·Matched via name phrase
- NCT06399952·RECRUITING·Baker Gordon Syndrome Natural History Study
Conditions: Rare Diseases · Autism or Autistic Traits · Development Delay · SYT-SSX Fusion Protein Expression·Matched via name phrase
- NCT05528744·RECRUITING·Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome
Conditions: Genetic Disease · Chopra-Amiel-Gordon Syndrome · CAGS · ANKRD17·Matched via name phrase
- NCT07360574·NOT YET RECRUITING·Piezo2-related Arthrogryposis & physiopathOLOgy 3
Conditions: Arthrogryposis Multiplex Congenita · Piezo2 Mutation Gain of Function·Matched via name phrase
- NCT07329257·RECRUITING·Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)
Conditions: Baker Gordon Syndrome · Rare Neurodevelopmental Conditions · Rare Neurogenetic Conditions · Syt-1 Disorder·Matched via name phrase
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.
"Gordon syndrome" OR "Camptodactyly-cleft palate-clubfoot syndrome" OR "Distal arthrogryposis type 3" OR "Distal arthrogryposis type IIA"
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" OR "PIEZO2"
Recall-expansion terms: PIEZO2
Study-type breakdown: 0 interventional · 7 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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
Ingested 2026-07-26T13:37:33.131Z