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mosaic trisomy 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mosaic trisomy 2

MONDO:0015763

Also known as:Mosaic trisomy chromosome 2Mosaic trisomy type 2trisomy 2 mosaicism

Overview

Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.

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 2.

11 publications have been identified in PubMed for mosaic trisomy 2. Research spans Case Report / Case Series (64%), Review / Meta-Analysis (18%), and Basic Science / Preclinical (18%).

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

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 4:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1723

GARD

Genetic and Rare Diseases Info Center

GARD:5331

Questions for Your Care Team

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mosaic trisomy 2

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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