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ring chromosome 18 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ring chromosome 18

MONDO:0015434

Also known as:Chromosome 18 RingRing chromosome type 18R18

Overview

Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.

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 common findings: Microcephaly, Intellectual disability, Global developmental delay, and Short stature and others; and sometimes findings: Abnormal internal genitalia, Hypothyroidism, Seizure, and Low muscle tone (hypotonia) and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Intellectual disability, Global developmental delay, Difficulty with thinking and memory (cognitive impairment)

Diagnosis

Biomarker and diagnostic research for ring chromosome 18 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 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 18.

15 publications have been identified in PubMed for ring chromosome 18. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Other (13%).

Research Type	Count	% of Total
Patient case studies	5	33%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:22 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1442

GARD

Genetic and Rare Diseases Info Center

GARD:6077

Questions for Your Care Team

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Kisho

ring chromosome 18

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 18

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