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

Rare Disease

brittle cornea syndrome

MONDO:0009242

Also known as:brittle cornea syndrome type 1kyphoscoliosis typetype VIB Ehlers-Danlos syndrome

Overview

Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Prognosis

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 brittle cornea syndrome.

14 publications have been identified in PubMed for brittle cornea syndrome. Research spans Basic Science / Preclinical (43%), Case Report / Case Series (36%), and Review / Meta-Analysis (21%).

Research Type	Count	% of Total
Laboratory research	6	43%

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 11:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:90354

GARD

Genetic and Rare Diseases Info Center

GARD:1019

Questions for Your Care Team

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brittle cornea syndrome

Overview

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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