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ring chromosome 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ring chromosome 1

MONDO:0015430

Also known as:Ring 1Ring chromosome type 1r(1) syndrome

Overview

Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.

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, Round face, Long philtrum, and Wide nasal bridge and others.

Organ System	Phenotype Count	Example Features
Head and neck	2	Microcephaly, Round face
Eyes

Diagnosis

Biomarker and diagnostic research for ring chromosome 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 13 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 1.

122 publications have been identified in PubMed for ring chromosome 1. Research spans Basic Science / Preclinical (60%), Epidemiology / Natural History (17%), and Review / Meta-Analysis (8%).

Research Type	Count	% of Total
Laboratory research	73	60%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1437

GARD

Genetic and Rare Diseases Info Center

GARD:1320

Questions for Your Care Team

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Kisho

ring chromosome 1

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 1

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