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


Excerpted from the GeneReview: Blepharophimosis, Ptosis, and Epicanthus Inversus
Blephariphimosis, ptosis, and epicanthus inversus syndrome (BPES) is a complex eyelid malformation invariably characterized by four major features: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. BPES type I includes the four major features and premature ovarian insufficiency (POI); BPES type II includes only the four major features. Other ophthalmic manifestations that can be associated with BPES include lacrimal duct anomalies, amblyopia, strabismus, and refractive errors. Minor features include a broad nasal bridge, low-set ears, and a short philtrum. Individuals with BPES and an intragenic FOXL2 pathogenic variant are expected to have normal intelligence, in contrast to affected individuals with cytogenetic rearrangements that involve FOXL2 and additional genes.

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28 tests are in the database for this condition.

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

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