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ring chromosome 12 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ring chromosome 12

MONDO:0015432

Also known as:Ring chromosome type 12R12Ring 12

Overview

Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy 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 always present findings: Global developmental delay, Growth delay, and Abnormal facial shape; and common findings: Microcephaly, Abnormal dermatoglyphics, and Clinodactyly. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Abnormal facial shape, Microcephaly, High, narrow palate

Diagnosis

Biomarker and diagnostic research for ring chromosome 12 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 3 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 12.

25 publications have been identified in PubMed for ring chromosome 12. Research spans Case Report / Case Series (30%), Epidemiology / Natural History (30%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Patient case studies	7	30%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:59 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1439

GARD

Genetic and Rare Diseases Info Center

GARD:1325

Questions for Your Care Team

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Kisho

ring chromosome 12

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 12

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