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trisomy 22 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

trisomy 22

MONDO:0022759

Also known as:chromosome 22 trisomy

Overview

Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR).

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 trisomy 22.

13 publications have been identified in PubMed for trisomy 22. Research spans Epidemiology / Natural History (42%), Case Report / Case Series (33%), and Review / Meta-Analysis (8%).

Research Type	Count	% of Total
Disease patterns and progression	5	42%

Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

GARD

Genetic and Rare Diseases Info Center

GARD:5335

Questions for Your Care Team

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trisomy 22

Overview

Research Landscape

Medical References

External Resources

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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