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ORPHA:15

Achondroplasia

low confidenceDisorder

Publications

7,152

Trials

28

Interventional, condition-specific

Researchers

1,078

Distinct authors in sample

Gene link

FGFR3

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A primary bone with micromelia characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

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 (2)

ACH · achondroplasia

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — FGFR3

  2. LiteraturePresent

    7,152 matched papers (2,897 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    28 matched on ClinicalTrials.gov (9 recruiting in sample)

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 (FGFR3).

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?

7,152

7,152 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

7,152 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).

2,897 in the last 10 years · low confidence

Phrase hits: 7,152 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,078

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Mohnike K16 papers · 2026

    Children's Hospital, Magdeburg, Germany.

    Papers in Europe PMC
  2. 02
    Irving M14 papers · 2026

    Guy's and St Thomas' NHS Foundation Trust, London, UK.

    Papers in Europe PMC
  3. 03
    Savarirayan R13 papers · 2026

    Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia. ravi.savarirayan@mcri.edu.au.

    Papers in Europe PMC
  4. 04
    Cormier-Daire V8 papers · 2026

    INSERM UMR 1163, Molecular and physiopathological bases of osteochondrodysplasia, Institut IMAGINE, Paris, France; Université Paris Cité, Centre Référence des Maladies Osseuses Constitutionnelles, Hôpital Necker Enfants Malades, Paris, France.

    Papers in Europe PMC
  5. 05
    Hoover-Fong J8 papers · 2026

    Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.

    Papers in Europe PMC
  6. 06
    Alves I7 papers · 2026

    ANDO Portugal, University of Évora - CHRC, Évora, Portugal. Electronic address: ines.alves@uevora.pt.

    Papers in Europe PMC
  7. 07
    Imagama S7 papers · 2026

    Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan.

    Papers in Europe PMC
  8. 08
    Matsushita M7 papers · 2026

    Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan.

    Papers in Europe PMC
  9. 09
    Sessa M7 papers · 2026

    Italian Association on Achondroplasia, Milan, Italy.

    Papers in Europe PMC
  10. 10
    Okada K6 papers · 2026

    University of Tokyo, Tokyo, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

28

interventional trials for this specific condition

28 interventional trials matched this specific condition name; 9 currently recruiting in our sample.

Data as of 27 July 2026

28 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 95.5th percentile).

low confidence · 95.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

28 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

19 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

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 2026-07-26

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.

"Achondroplasia"

Run this search on Europe PMC

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

"Achondroplasia"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 28 interventional · 19 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

Synonyms dropped by stoplist: ACH

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T12:05:58.292Z