ORPHA:560
Marshall syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
289
73.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,225
Distinct authors in sample
Gene link
COL11A1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal and early-onset osteoarthritis.
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:0007949
- MeSH:C536025
- OMIM:154780
- UMLS:C0265235
- NCIT:C128115
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 — COL11A1
- LiteraturePresent
289 matched papers (150 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 (COL11A1).
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?
289
289 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.
289 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).
150 in the last 10 years · medium confidence · 73.9th percentile (publications denominator)
Phrase hits: 289 · MeSH hits: 0
Who's working on it?
1,225
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.
- 01Griffith AJ6 papers · 2022
Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA. griffith@aya.yale.edu
Papers in Europe PMC - 02Ala-Kokko L4 papers · 2010
Connective Tissue Gene Tests, Allentown, Pennysylvania, USA.
Papers in Europe PMC - 03Wang J4 papers · 2026
Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, PR China.
Papers in Europe PMC - 04Wang X4 papers · 2026
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Papers in Europe PMC - 05Zhang J4 papers · 2021
Eye Institute, Affiliated Hospital of Nantong University, Nantong, China.
Papers in Europe PMC - 06Balobaid A3 papers · 2016
Department of Medical Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
Papers in Europe PMC - 07Chen S3 papers · 2022
Department of Pediatrics, The Second Affiliated Hospital of Guangxi Medical University, Guangxi, China.
Papers in Europe PMC - 08Chen Y3 papers · 2022
Department of Electrical Engineering and Computer Science, Case Western Reserve University, Cleveland, OH 44106, United States; Division of Medical Informatics, School of Medicine, Case Western Reserve University, Cleveland, OH 44106, United States.
Papers in Europe PMC - 09Imtiaz F3 papers · 2018
Department of Genetics, King Faisal Specialist Hospital & Research Centre. P.O. Box 3354, Riyadh 11211, Saudi Arabia. fahmad@kfshrc.edu.sa.
Papers in Europe PMC - 10Jiang H3 papers · 2025
Department of Gastroenterology, Affiliated Hospital of Jiangsu University, Jiangsu University, Zhenjiang, China.
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 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.
"Marshall syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Marshall syndrome" OR "COL11A1"
Recall-expansion terms: COL11A1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-26T14:20:35.106Z