ORPHA:485
Kniest dysplasia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
287
69.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,184
Distinct authors in sample
Gene link
COL2A1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare type 2 collagen-related bone disorder characterized by moderately severe chondrodysplasia with disproportionate short stature of onset, prominent joints with restricted mobility, large epiphyses and dumbbell deformity of the long bones. It was first described in 1952 by Dr Wilhelm Kniest, a German pediatrician.
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:0007987
- MeSH:C537207
- OMIM:156550
- UMLS:C0265279
- NCIT:C125594
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 — COL2A1
- LiteraturePresent
287 matched papers (120 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 (COL2A1).
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?
287
287 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.
287 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).
120 in the last 10 years · high confidence · 69.5th percentile (publications denominator)
Phrase hits: 287 · MeSH hits: 0
Who's working on it?
1,184
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.
- 01Cohn DH8 papers · 2016
Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, Los Angeles.
Papers in Europe PMC - 02Richards AJ8 papers · 2022
Department of Pathology, University of Cambridge, Cambridge, UK. arichard@hgmp.mrc.ac.uk
Papers in Europe PMC - 03Rimoin DL8 papers · 2008Papers in Europe PMC
- 04Snead MP8 papers · 2022
NHS England Highly Specialised Stickler Syndrome Diagnostic Service, Cambridge University NHS Foundation Trust, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 0QQ, UK. mps34@cam.ac.uk.
Papers in Europe PMC - 05
- 06Lachman RS7 papers · 2016
International Skeletal Dysplasia Registry, University of California Los Angeles, Los Angeles.
Papers in Europe PMC - 07Nishimura G7 papers · 2025
Department of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo, Japan.
Papers in Europe PMC - 08
- 09Eyre DR5 papers · 1998Papers in Europe PMC
- 10Wilcox WR5 papers · 2008Papers 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.
high 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
- NCT05408715·RECRUITING·A Natural History Study in Children With a Type II Collagen Disorder With Short Stature
Conditions: SEDC · Hypochondrogenesis · Semd, Strudwick Type · Kniest Dysplasia·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.
"Kniest dysplasia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Kniest dysplasia" OR "COL2A1" OR "spondylometaphyseal dysplasia"
Recall-expansion terms: COL2A1, spondylometaphyseal dysplasia
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
Ingested 2026-07-26T14:00:20.601Z