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GTR Home > Conditions/Phenotypes > Blepharophimosis, ptosis, and epicanthus inversus syndrome

Blepharophimosis, ptosis, and epicanthus inversus syndrome

Synonyms
Blepharophimosis, ptosis, and epicanthus inversus
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is defined by a complex eyelid malformation characterized by four major features, all present at birth: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. BPES type I includes the four major features and primary ovarian insufficiency; BPES type II includes only the four major features. Other ophthalmic manifestations that can be associated with BPES include dysplastic eyelids, lacrimal duct anomalies, strabismus, refractive errors, and amblyopia. Other craniofacial features may include a broad nasal bridge and low-set ears.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Hannah Verdin
Charlotte Matton
Elfride De Baere
view full author information

Available tests

39 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (39 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BPES, BPES1, PFRK, PINTO, POF3, FOXL2
    Summary: forkhead box L2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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