Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

trisomy 18 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

trisomy 18

MONDO:0018071

Also known as:E3 trisomyEdwards syndromechromosome 18 duplication

Find Clinical TrialsTrials

Overview

Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.

Clinical Trials3 registered · 1 recruiting

Patient Orgs3 organizations · E.WE Foundation, Support Organization for Trisomy 18, 13, and Related Disorders + 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: Cryptorchidism, Narrow palate, Dolichocephaly, and Prominent occiput and others; and common findings: Abnormal morphology of female internal genitalia, Horseshoe kidney, Hydronephrosis, and Cleft palate and others. 74 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	6	Deviation of finger, Camptodactyly of finger, Overlapping fingers

Diagnosis

Biomarker and diagnostic research for trisomy 18 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 25 very common features, 31 common features.

Estimated prevalence: 1-9 in 1,000,000 (Rare).

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.

3 clinical trials registered, 1 recruiting. Interventions under study include other interventions. Research is sponsored by a mix of industry and academic institutions.

203 publications have been identified in PubMed for trisomy 18. Research spans Case Report / Case Series (25%), Diagnostic / Biomarker (24%), and Epidemiology / Natural History (16%).

Research Type	Count	% of Total
Patient case studies	50	25%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

View all PAGs →

E.WE FoundationPrimary Focus

USWebsite ↗

Support Organization for Trisomy 18, 13, and Related DisordersPrimary Focus

USWebsite ↗

Support Organization for Trisomy 13/18 and Related Disorders, UK

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

Orphanet

European rare disease database

Orphanet:3380

GARD

Genetic and Rare Diseases Info Center

GARD:6321

Questions for Your Care Team

→Are any of the 3 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 E.WE Foundation and other patient organizations for support?

← Back to All Diseases

Kisho

trisomy 18

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Impact of screening programs on the prenatal diagnosis (detection rate) of trisomy 13 and 18 over a 30-year period.

Complex mosaic form of trisomy chromosome 18 and monosomy chromosome X in a girl with esophageal atresia and mild developmental delay: Diagnostic and therapeutic challenge and a review of literature.

Trisomy 18 presenting with complete bilateral radial aplasia: a rare case report.

trisomy 18

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Impact of screening programs on the prenatal diagnosis (detection rate) of trisomy 13 and 18 over a 30-year period.

Complex mosaic form of trisomy chromosome 18 and monosomy chromosome X in a girl with esophageal atresia and mild developmental delay: Diagnostic and therapeutic challenge and a review of literature.

Trisomy 18 presenting with complete bilateral radial aplasia: a rare case report.