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

mosaic trisomy 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mosaic trisomy 7

MONDO:0015771

Also known as:Mosaic trisomy type 7Mosaic trisomy chromosome 7trisomy 7 mosaicism

Overview

Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.

Diagnosis

Biomarker and diagnostic research for mosaic trisomy 7 has been reported in the published literature.

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 7.

12 publications have been identified in PubMed for mosaic trisomy 7. Research spans Case Report / Case Series (50%), Diagnostic / Biomarker (25%), and Basic Science / Preclinical (25%).

Research Type	Count	% of Total
Patient case studies	6	50%

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 8:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1747

GARD

Genetic and Rare Diseases Info Center

GARD:5354

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

mosaic trisomy 7

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications