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ring chromosome 17 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ring chromosome 17

MONDO:0015433

Also known as:Ring chromosome type 17R17Ring 17

Overview

Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.

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: Cafe-au-lait spot, Intellectual disability, Seizure, and Global developmental delay and others; and sometimes findings: Microcephaly, Epicanthus, Micrognathia, and Wide nasal bridge and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Intellectual disability, Seizure, Global developmental delay

Diagnosis

Biomarker and diagnostic research for ring chromosome 17 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 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 17.

105 publications have been identified in PubMed for ring chromosome 17. Research spans Basic Science / Preclinical (76%), Review / Meta-Analysis (8%), and Gene Therapy / Novel Therapeutics (6%).

Research Type	Count	% of Total
Laboratory research	78	76%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 7:28 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1441

GARD

Genetic and Rare Diseases Info Center

GARD:4724

Questions for Your Care Team

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Kisho

ring chromosome 17

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 17

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