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mosaic trisomy 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mosaic trisomy 10

MONDO:0019868

Also known as:Mosaic trisomy chromosome 10Mosaic trisomy type 10trisomy 10 mosaicism

Overview

Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually occurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.

ResearchLimited published research (3 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 mosaic trisomy 10.

3 publications have been identified in PubMed for mosaic trisomy 10. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

Koyuncuoglu MA (2025). [PMID: 41078617](https://pubmed.ncbi.nlm.nih.gov/41078617/). *Mol Syndromol*. [Review / Meta-Analysis]
Ludorf KL (2025). [PMID: 40920381](https://pubmed.ncbi.nlm.nih.gov/40920381/). *JAMA Netw Open*. [Epidemiology / Natural History]
Bansal P (2024). [PMID: 38848354](https://pubmed.ncbi.nlm.nih.gov/38848354/). *Sci Adv*. [Basic Science / Preclinical]

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:96063

GARD

Genetic and Rare Diseases Info Center

GARD:19302

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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mosaic trisomy 10

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team