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

Rare Disease

trisomy 18p

MONDO:0015740

Also known as:Duplication 18pDuplication of the short arm of chromosome 18trisomy of the short arm of chromosome 18

Overview

Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.

ResearchLimited published research (5 articles)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_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.

No clinical trials have been registered for trisomy 18p.

5 publications have been identified in PubMed for trisomy 18p. Research spans Case Report / Case Series (60%) and Basic Science / Preclinical (40%).

Recent Publications

Deng G (2026). [PMID: 41658620](https://pubmed.ncbi.nlm.nih.gov/41658620/). *Front Med (Lausanne)*. [Case Report / Case Series]
Wakabayashi H (2025). [PMID: 40447572](https://pubmed.ncbi.nlm.nih.gov/40447572/). *Hum Genome Var*. [Case Report / Case Series]
Wright CA (2025). [PMID: 39924478](https://pubmed.ncbi.nlm.nih.gov/39924478/). *Mol Cytogenet*. [Basic Science / Preclinical]
Vormittag-Nocito E (2025). [PMID: 40239807](https://pubmed.ncbi.nlm.nih.gov/40239807/). *Mod Pathol*. [Basic Science / Preclinical]
Ardisia C (2024). [PMID: 39596664](https://pubmed.ncbi.nlm.nih.gov/39596664/). *Genes (Basel)*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1715

GARD

Genetic and Rare Diseases Info Center

GARD:5323

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

trisomy 18p

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

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 18p

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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.