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ring chromosome 11 (RC11) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ring chromosome 11

MONDO:0019906

Also known as:RC11Ring chromosome type 11r(11) syndrome

Overview

Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported.

Diagnosis

Biomarker and diagnostic research for ring chromosome 11 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 11.

16 publications have been identified in PubMed for ring chromosome 11. Research spans Basic Science / Preclinical (31%), Review / Meta-Analysis (19%), and Diagnostic / Biomarker (13%).

Research Type	Count	% of Total
Laboratory research	5	31%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 1:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:96175

GARD

Genetic and Rare Diseases Info Center

GARD:10846

Questions for Your Care Team

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ring chromosome 11

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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