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ring chromosome 16 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ring chromosome 16

MONDO:0019909

Also known as:Ring chromosome type 16R16Ring 16

Overview

Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature.

Diagnosis

Biomarker and diagnostic research for ring chromosome 16 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 ring chromosome 16.

96 publications have been identified in PubMed for ring chromosome 16. Research spans Basic Science / Preclinical (66%), Epidemiology / Natural History (12%), and Review / Meta-Analysis (8%).

Research Type	Count	% of Total
Laboratory research	59	66%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 2:52 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:96178

GARD

Genetic and Rare Diseases Info Center

GARD:10855

Questions for Your Care Team

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ring chromosome 16

Overview

Diagnosis

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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