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blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome

MONDO:0016858

Also known as:blepharophimosis types 1 and 2 due to a point mutation

Overview

Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure.

ResearchLimited published research (4 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 a point mutation syndrome.

4 publications have been identified in PubMed for blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).

Recent Publications

Colson C (2025). [PMID: 39837771](https://pubmed.ncbi.nlm.nih.gov/39837771/). *Clinical genetics*. [Review / Meta-Analysis]
Alzaben KA (2025). [PMID: 40226226](https://pubmed.ncbi.nlm.nih.gov/40226226/). *American journal of ophthalmology case reports*. [Case Report / Case Series]
Danti L (2025). [PMID: 40102860](https://pubmed.ncbi.nlm.nih.gov/40102860/). *Reproductive biology and endocrinology : RB&E*. [Basic Science / Preclinical]
Shen B (2025). [PMID: 40251640](https://pubmed.ncbi.nlm.nih.gov/40251640/). *Human genomics*. [Basic Science / Preclinical]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 10:21 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:261572

Questions for Your Care Team

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blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team