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Down syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Down syndrome

MONDO:0008608

Also known as:Down syndrome, Isolated casesDown's syndromeDown's syndrome - trisomy 21

Find Clinical TrialsTrials

Overview

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

GeneticsSporadic (not inherited)

Clinical Trials121 registered · 68 recruiting

Patient Orgs3 organizations · MENCAP, National Down Syndrome Congress + 1 more

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Upslanted palpebral fissure; and common findings: Epicanthus, Low muscle tone (hypotonia), Single transverse palmar crease, and Sandal gap and others. 47 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Intellectual disability, Myeloproliferative disorder

Diagnosis

Biomarker and diagnostic research for Down syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 very common feature, 7 common features.

Estimated prevalence: 1-5 in 10,000 (Uncommon).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

121 clinical trials registered, 68 recruiting. Interventions under study include other interventions, drug therapy, medical devices, and procedural interventions. Pipeline includes 3 PHASE4, 7 PHASE3, 12 PHASE2. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT07248449](https://clinicaltrials.gov/study/NCT07248449)

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 6:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

View all PAGs →

MENCAPPrimary Focus

USWebsite ↗

National Down Syndrome CongressPrimary Focus

USWebsite ↗

National Down Syndrome SocietyPrimary Focus

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

Are you a patient organization not listed here? Claim this page to be listed and embed this content on your site — free.

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:190685

Orphanet

European rare disease database

Orphanet:870

Questions for Your Care Team

→Are any of the 121 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with MENCAP and other patient organizations for support?

← Back to All Diseases

Research Type	Count	% of Total
Laboratory research	152	30%
Disease patterns and progression	110	22%
Research summaries	98	20%
Testing and diagnosis research	43	9%
Patient case studies	36	7%
Clinical study results	33	7%
Other research	18	4%
New treatment approaches	10	2%

Kisho

Down syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Beyond Bartonellosis: A Case Report of Hepatic Tuberculosis as a Final Diagnosis in a Child With Down Syndrome.

A Researcher's guide to rodent models of Down syndrome: Recent insights and translational perspectives.

Cryptogenic Multifocal Ulcerating Stenosing Enteritis (CMUSE) in a Patient with Down Syndrome: A Case Report.

Down syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Beyond Bartonellosis: A Case Report of Hepatic Tuberculosis as a Final Diagnosis in a Child With Down Syndrome.

A Researcher's guide to rodent models of Down syndrome: Recent insights and translational perspectives.

Cryptogenic Multifocal Ulcerating Stenosing Enteritis (CMUSE) in a Patient with Down Syndrome: A Case Report.