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mosaic trisomy 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mosaic trisomy 3

MONDO:0015060

Also known as:Mosaic trisomy chromosome 3Mosaic trisomy type 3trisomy 3 mosaicism

Overview

Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.

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 mosaic trisomy 3.

11 publications have been identified in PubMed for mosaic trisomy 3. Research spans Case Report / Case Series (64%), Review / Meta-Analysis (18%), and Basic Science / Preclinical (9%).

Research Type	Count	% of Total
Patient case studies	7	64%

Data assembled from 3 of 12 sources · Last updated Oct 4, 2026, 3:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:100071

GARD

Genetic and Rare Diseases Info Center

GARD:5342

Questions for Your Care Team

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mosaic trisomy 3

Overview

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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