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ring chromosome 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ring chromosome 10

MONDO:0015431

Also known as:Ring chromosome type 10Ring 10Ring chromosome 10 syndrome

Overview

Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases.

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: Thin vermilion border, Hypertelorism, Long philtrum, and Micrognathia and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Intellectual disability, Seizure
Growth and development

Diagnosis

Biomarker and diagnostic research for ring chromosome 10 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 24 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 10.

29 publications have been identified in PubMed for ring chromosome 10. Kisho has analyzed 17 by research type. Research spans Basic Science / Preclinical (53%), Other (12%), and Epidemiology / Natural History (12%).

Research Type	Count	% of Total
Laboratory research	9	53%

Data assembled from 4 of 12 sources · Last updated Oct 3, 2026, 8:10 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1438

GARD

Genetic and Rare Diseases Info Center

GARD:1322

Questions for Your Care Team

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Kisho

ring chromosome 10

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 10

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