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ORPHA:870

Down syndrome

medium confidenceDisorder

Also known as: Trisomy 21

Publications

85,557

99.7th percentile

Trials

283

Interventional, condition-specific

Researchers

1,216

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A total trisomy that is caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable , muscular , and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, neurosensorial or endocrine defects.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

Down syndrome, Isolated cases · Down's syndrome · leukemia, megakaryoblastic, with or without Down syndrome, somatic · trisomy 21 (Down 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

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    85,557 matched papers (39,512 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

    283 matched on ClinicalTrials.gov (71 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

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?

85,557

85,557 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.

85,557 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).

39,512 in the last 10 years · medium confidence · 99.7th percentile (publications denominator)

Phrase hits: 85,557 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,216

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
    Espinosa JM5 papers · 2026

    Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz, Aurora CO, United States.

    Papers in Europe PMC
  2. 02
    Zhang Y5 papers · 2026

    Department of Epidemiology and Health Statistics, College of Public Health, Zhengzhou University, Zhengzhou, Henan Province, China.

    Papers in Europe PMC
  3. 03
    Galbraith MD4 papers · 2026

    Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz, Aurora, USA.

    Papers in Europe PMC
  4. 04
    Barone E3 papers · 2026

    Department of Biochemical Sciences "A. Rossi-Fanelli", Sapienza University of Rome, Piazzale A. Moro 5, 00185 Roma, Italy.

    Papers in Europe PMC
  5. 05
    Chen H3 papers · 2026

    Department of Obstetrics and Gynecology, the Reproductive Medicine Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.

    Papers in Europe PMC
  6. 06
    Corcoran E3 papers · 2026

    Down's Syndrome Research Foundation, Tunbridge Wells, UK.

    Papers in Europe PMC
  7. 07
    Di Domenico F3 papers · 2026

    Department of Biochemical Sciences "A. Rossi-Fanelli", Sapienza University of Rome, Piazzale A. Moro 5, 00185 Roma, Italy.

    Papers in Europe PMC
  8. 08
    Farrell C3 papers · 2026

    Cardiovascular Pulmonary Research Laboratories, University of Colorado Anschutz, Aurora, CO, United States.

    Papers in Europe PMC
  9. 09
    Forlenza OV3 papers · 2026

    Universidade de São Paulo, Faculdade de Medicina, Departamento e Instituto de Psiquiatria, Laboratório de Neurociência (LIM-27), São Paulo SP, Brazil.

    Papers in Europe PMC
  10. 10
    Fortea J3 papers · 2026

    Sant Pau Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, Departamento de Medicina, Barcelona, Spain.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

283

interventional trials for this specific condition

283 interventional trials matched this specific condition name; 71 currently recruiting in our sample.

Data as of 27 July 2026

283 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 99.5th percentile).

medium confidence · 99.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

149 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.

"Down syndrome" OR "Trisomy 21" OR "Down syndrome, Isolated cases" OR "Down's syndrome" OR "leukemia, megakaryoblastic, with or without Down syndrome, somatic" OR "trisomy 21 (Down syndrome)"

Run this search on Europe PMC

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

"Down syndrome" OR "Trisomy 21" OR "Down syndrome, Isolated cases" OR "Down's syndrome" OR "leukemia, megakaryoblastic, with or without Down syndrome, somatic" OR "trisomy 21 (Down syndrome)"

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: 283 interventional · 149 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

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 2026-07-26T15:42:20.471Z