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blepharophimosis-epicanthus inversus-ptosis due to copy number variations - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

blepharophimosis-epicanthus inversus-ptosis due to copy number variations

MONDO:0016859

Also known as:blepharophimosis types 1 and 2 due to copy number variationsblepharophimosis-epicanthus inversus-ptosis due to a CNV

Overview

Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement.

ResearchLimited published research (2 articles)

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 blepharophimosis-epicanthus inversus-ptosis due to copy number variations.

2 publications have been identified in PubMed for blepharophimosis-epicanthus inversus-ptosis due to copy number variations. Research spans Review / Meta-Analysis (100%).

Recent Publications

Al Ojaimi M (2025). [PMID: 40301961](https://pubmed.ncbi.nlm.nih.gov/40301961/). *Hum Genomics*. [Review / Meta-Analysis]
Davenport ML (2025). [PMID: 39725460](https://pubmed.ncbi.nlm.nih.gov/39725460/). *RNA*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:261579

Questions for Your Care Team

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blepharophimosis-epicanthus inversus-ptosis due to copy number variations

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team