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ring chromosome 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ring chromosome 3

MONDO:0019904

Also known as:Ring chromosome type 3rose cluster 3R3

Overview

Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias.

Diagnosis

Biomarker and diagnostic research for ring chromosome 3 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 3.

145 publications have been identified in PubMed for ring chromosome 3. Kisho has analyzed 93 by research type. Research spans Epidemiology / Natural History (35%), Basic Science / Preclinical (31%), and Clinical Trial Publication (12%).

Research Type	Count	% of Total
Disease patterns and progression	33	35%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:96172

GARD

Genetic and Rare Diseases Info Center

GARD:10839

Questions for Your Care Team

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ring chromosome 3

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