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ring chromosome 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ring chromosome 5

MONDO:0016654

Also known as:Ring chromosome type 5rose cluster 5R5

Overview

Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges).

Diagnosis

Biomarker and diagnostic research for ring chromosome 5 has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 5.

164 publications have been identified in PubMed for ring chromosome 5. Kisho has analyzed 117 by research type. Research spans Epidemiology / Natural History (45%), Basic Science / Preclinical (21%), and Clinical Trial Publication (17%).

Research Type	Count	% of Total
Disease patterns and progression	53	45%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 2:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:251043

GARD

Genetic and Rare Diseases Info Center

GARD:10841

Questions for Your Care Team

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ring chromosome 5

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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