Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

ring chromosome 13 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ring chromosome 13

MONDO:0019907

Also known as:Ring chromosome type 13R13Ring 13

Overview

Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.

ResearchLimited published research (9 articles)

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 13.

16 publications have been identified in PubMed for ring chromosome 13. Kisho has analyzed 9 by research type. Research spans Clinical Trial Publication (78%), Case Report / Case Series (11%), and Basic Science / Preclinical (11%).

Recent Publications

Zupančič Ž (2025). [PMID: 40925524](https://pubmed.ncbi.nlm.nih.gov/40925524/). *Am J Clin Nutr*. [Clinical Trial Publication]
van Lieshout GAA (2025). [PMID: 40441386](https://pubmed.ncbi.nlm.nih.gov/40441386/). *J Nutr*. [Clinical Trial Publication]
Boot N (2025). [PMID: 41101508](https://pubmed.ncbi.nlm.nih.gov/41101508/). *J Nutr*. [Clinical Trial Publication]
Aussieker T (2025). [PMID: 39501478](https://pubmed.ncbi.nlm.nih.gov/39501478/). *Med Sci Sports Exerc*. [Clinical Trial Publication]
Aussieker T (2025). [PMID: 40523226](https://pubmed.ncbi.nlm.nih.gov/40523226/). *Med Sci Sports Exerc*. [Clinical Trial Publication]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 3:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:96176

GARD

Genetic and Rare Diseases Info Center

GARD:6069

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

ring chromosome 13

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team