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mosaic trisomy 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mosaic trisomy 8

MONDO:0019867

Also known as:Mosaic trisomy type 8Warkany syndromeMosaic trisomy chromosome 8

Overview

Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.

ResearchLimited published research (3 articles)

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: Moderate intellectual disability; and common findings: Vesicoureteral reflux, Hydronephrosis, Dolichocephaly, and Long face and others. 42 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Limitation of joint mobility, Sideways curvature of the spine (scoliosis), Narrow pelvis bone

Prognosis

Phenotype severity distribution: 1 very common feature, 27 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 mosaic trisomy 8.

3 publications have been identified in PubMed for mosaic trisomy 8. Research spans Other (33%), Review / Meta-Analysis (33%), and Case Report / Case Series (33%).

Recent Publications

Dyrland M (2025). [PMID: 40671334](https://pubmed.ncbi.nlm.nih.gov/40671334/). *Pediatr Blood Cancer*. [Other]
Altahan FA (2025). [PMID: 41184213](https://pubmed.ncbi.nlm.nih.gov/41184213/). *Ophthalmic Genet*. [Review / Meta-Analysis]
Gao M (2025). [PMID: 39622782](https://pubmed.ncbi.nlm.nih.gov/39622782/). *Am J Med Genet A*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:07 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:96061

GARD

Genetic and Rare Diseases Info Center

GARD:5359

Questions for Your Care Team

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mosaic trisomy 8

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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