ORPHA:2554
Ear-patella-short stature syndrome
Also known as: Meier-Gorlin syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
410
84.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,216
Distinct authors in sample
Gene link
GINS2, GINS3
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare microcephalic primordial dwarfism characterized by the association of bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).
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:0016817
- MeSH:C538012
- UMLS:C1868684
Additional Mondo synonyms (1)
ear-patella-short stature 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
Strong — GINS2, GINS3
- LiteraturePresent
410 matched papers (295 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 (GINS2, GINS3).
GenCC classification: Strong.
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?
410
410 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.
410 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).
295 in the last 10 years · medium confidence · 84.5th percentile (publications denominator)
Phrase hits: 410 · MeSH hits: 0
Who's working on it?
1,216
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.
- 01Bicknell LS12 papers · 2025
Medical Research Council (MRC) Human Genetics Unit (HGU), Institute for Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK.
Papers in Europe PMC - 02Jackson AP9 papers · 2023
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Papers in Europe PMC - 03Bongers EM8 papers · 2015
Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands. Electronic address: ernie.bongers@radboudumc.nl.
Papers in Europe PMC - 04Balasov M6 papers · 2025
Department of Biochemistry and Molecular Genetics, University of Alabama at Birmingham, School of Medicine, Birmingham, Alabama.
Papers in Europe PMC - 05Brunner HG6 papers · 2015
Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.
Papers in Europe PMC - 06Chesnokov I6 papers · 2025
Department of Biochemistry and Molecular Genetics, University of Alabama at Birmingham, School of Medicine, Birmingham, Alabama.
Papers in Europe PMC - 07Akhmetova K5 papers · 2025
Department of Biochemistry and Molecular Genetics, University of Alabama at Birmingham, School of Medicine, Birmingham, Alabama.
Papers in Europe PMC - 08Bleichert F5 papers · 2026
Miller Institute for Basic Research in Science , University of California, Berkeley , Berkeley , United States ; Department of Molecular and Cell Biology , University of California, Berkeley , Berkeley , United States.
Papers in Europe PMC - 09Knoers NV5 papers · 2015
Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands. v.v.a.knoers@umcutrecht.nl.
Papers in Europe PMC - 10Liu Y5 papers · 2026
Biochemistry Ph.D. Program, Florida International University, Miami, FL 33199, USA.
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. 1 observational study 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
1 observational study matches 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
- NCT04569149·RECRUITING·Primordial Dwarfism Registry
Conditions: MOPDII · Meier-Gorlin Syndrome · Saul-Wilson Syndrome · Microcephalic Primordial Dwarfism·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.
"Ear-patella-short stature syndrome" OR "Meier-Gorlin syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ear-patella-short stature syndrome" OR "Meier-Gorlin syndrome" OR "GINS2" OR "GINS3"
Recall-expansion terms: GINS2, GINS3
Study-type breakdown: 0 interventional · 1 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (410) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T20:29:40.317Z