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ring chromosome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ring chromosome 2

MONDO:0019903

Also known as:Ring chromosome type 2rose cluster 2R2

Overview

Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).

Diagnosis

Biomarker and diagnostic research for ring chromosome 2 has been reported in the published literature.

Prognosis

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 2.

164 publications have been identified in PubMed for ring chromosome 2. Research spans Basic Science / Preclinical (37%), Epidemiology / Natural History (35%), and Clinical Trial Publication (13%).

Research Type	Count	% of Total
Laboratory research	58	37%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 12:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:96171

GARD

Genetic and Rare Diseases Info Center

GARD:10837

Questions for Your Care Team

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ring chromosome 2

Overview

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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