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ring chromosome 21 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ring chromosome 21

MONDO:0015437

Also known as:Chromosome 21 RingRing chromosome type 21chromosome 21 en anneau

Overview

Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.

ResearchLimited published research (9 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Abnormal facial shape; and common findings: Intellectual disability, Seizure, Global developmental delay, and Amenorrhea and others. 30 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Intellectual disability, Seizure, Global developmental delay

Prognosis

Phenotype severity distribution: 1 very common feature, 7 common features.

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 21.

9 publications have been identified in PubMed for ring chromosome 21. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (22%), and Review / Meta-Analysis (11%).

Recent Publications

Chailapakul P (2026). [PMID: 42028973](https://pubmed.ncbi.nlm.nih.gov/42028973/). *Mutagenesis*. [Basic Science / Preclinical]
Maharjan KK (2025). [PMID: 41268009](https://pubmed.ncbi.nlm.nih.gov/41268009/). *Med J Armed Forces India*. [Epidemiology / Natural History]
Joy P (2025). [PMID: 41510431](https://pubmed.ncbi.nlm.nih.gov/41510431/). *Cureus*. [Case Report / Case Series]
Dang D (2025). [PMID: 39727192](https://pubmed.ncbi.nlm.nih.gov/39727192/). *Nucleic Acids Res*. [Basic Science / Preclinical]
Guzmán-Santiago TA (2025). [PMID: 40267370](https://pubmed.ncbi.nlm.nih.gov/40267370/). *Rev Med Inst Mex Seguro Soc*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 4:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1445

GARD

Genetic and Rare Diseases Info Center

GARD:6083

Questions for Your Care Team

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ring chromosome 21

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

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Questions for Your Care Team

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