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brittle cornea syndrome 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brittle cornea syndrome 1

MONDO:0024543

Also known as:ZNF469 brittle cornea syndromebrittle cornea syndrome caused by mutation in ZNF469BCS1

Overview

Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene.

GeneticsAutosomal recessive · ZNF469 (chr 16)

ResearchLimited published research (9 articles)

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: Epicanthus, Visual loss, Palmoplantar cutis laxa, and Congenital hip dislocation and 17 more.

Organ System	Phenotype Count	Example Features
Eyes	3	Keratoconus, Abnormal cornea morphology, Decreased corneal thickness
Skin

Genetic Landscape

ZNF469 function has not been fully characterized.

Brittle cornea syndrome 1 is associated with mutations in the ZNF469 gene on chromosome 16.

Diagnosis

Genetic testing for ZNF469 is available. Testing is considered confirmatory for diagnosis.

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 brittle cornea syndrome 1.

9 publications have been identified in PubMed for brittle cornea syndrome 1. Research spans Case Report / Case Series (44%), Review / Meta-Analysis (33%), and Basic Science / Preclinical (22%).

Recent Publications

Zhu D (2026). [PMID: 41953647](https://pubmed.ncbi.nlm.nih.gov/41953647/). *Mol Vis*. [Review / Meta-Analysis]
Cappellani F (2026). [PMID: 41595486](https://pubmed.ncbi.nlm.nih.gov/41595486/). *Genes (Basel)*. [Review / Meta-Analysis]
Zeppieri M (2025). [PMID: 40647596](https://pubmed.ncbi.nlm.nih.gov/40647596/). *Diagnostics (Basel)*. [Case Report / Case Series]
Yangzes S (2025). [PMID: 40719309](https://pubmed.ncbi.nlm.nih.gov/40719309/). *Cornea*. [Case Report / Case Series]
Mellgren AEC (2025). [PMID: 40156465](https://pubmed.ncbi.nlm.nih.gov/40156465/). *FEBS Open Bio*. [Basic Science / Preclinical]
Moore P (2024). [PMID: 38892036](https://pubmed.ncbi.nlm.nih.gov/38892036/). *Int J Mol Sci*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:58 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:229200

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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brittle cornea syndrome 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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