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blepharophimosis-ptosis-epicanthus inversus syndrome plus - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

blepharophimosis-ptosis-epicanthus inversus syndrome plus

MONDO:0035521

Also known as:3q23 microdeletion syndromeBPES plus

Overview

ResearchLimited published research (3 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 very common findings: Telecanthus, Ptosis, Epicanthus inversus, and Blepharophimosis; and common findings: Short philtrum, Low-set ears, Wide nasal bridge, and Abnormality of refraction and others. 35 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	4	Ptosis, Amblyopia, Strabismus

Prognosis

Phenotype severity distribution: 4 very common features, 8 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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-ptosis-epicanthus inversus syndrome plus.

3 publications have been identified in PubMed for blepharophimosis-ptosis-epicanthus inversus syndrome plus. Research spans Review / Meta-Analysis (67%) and Basic Science / Preclinical (33%).

Recent Publications

Danti L (2025). [PMID: 40102860](https://pubmed.ncbi.nlm.nih.gov/40102860/). *Reprod Biol Endocrinol*. [Basic Science / Preclinical]
Locatello LG (2024). [PMID: 39763460](https://pubmed.ncbi.nlm.nih.gov/39763460/). *Acta Otorhinolaryngol Ital*. [Review / Meta-Analysis]
Stenta T (2024). [PMID: 38924306](https://pubmed.ncbi.nlm.nih.gov/38924306/). *Clin Transl Sci*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 12:27 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:572333

GARD

Genetic and Rare Diseases Info Center

GARD:22312

Questions for Your Care Team

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blepharophimosis-ptosis-epicanthus inversus syndrome plus

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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