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ring chromosome 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ring chromosome 4

MONDO:0015439

Also known as:Ring chromosome type 4r(4) syndromerose cluster 4

Overview

Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.

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: Split hand; and common findings: Aplasia/Hypoplasia of the radius. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	2	Split hand, Abnormality of the upper limb

Explore clinical features

Diagnosis

Biomarker and diagnostic research for ring chromosome 4 has been reported in the published literature.

Prognosis

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

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 4.

155 publications have been identified in PubMed for ring chromosome 4. Research spans Epidemiology / Natural History (40%), Basic Science / Preclinical (23%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Disease patterns and progression	62	40%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 8:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1447

GARD

Genetic and Rare Diseases Info Center

GARD:1339

Questions for Your Care Team

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ring chromosome 4

Overview

Clinical Presentation

Explore clinical features

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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