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ring chromosome 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ring chromosome 6

MONDO:0015440

Also known as:Chromosome 6 RingRing chromosome type 6rose cluster 6

Overview

Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.

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: Microcephaly, Epicanthus, Hypertelorism, and Macrotia and others.

Organ System	Phenotype Count	Example Features
Head and neck	1	Microcephaly
Lungs and breathing

Diagnosis

Biomarker and diagnostic research for ring chromosome 6 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 11 very common features.

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 6.

110 publications have been identified in PubMed for ring chromosome 6. Research spans Epidemiology / Natural History (45%), Basic Science / Preclinical (18%), and Clinical Trial Publication (16%).

Research Type	Count	% of Total
Disease patterns and progression	50	45%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:38 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1448

GARD

Genetic and Rare Diseases Info Center

GARD:6095

Questions for Your Care Team

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Kisho

ring chromosome 6

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

ring chromosome 6

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications