OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations

Blepharophimosis-epicanthus inversus-ptosis (BPES) due to copy number variations is an obsolete Orphanet entry (Orphanet code 261579) that was previously used to classify cases of Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) specifically caused by chromosomal copy number variations (deletions or duplications) involving the FOXL2 gene region on chromosome 3q23. This condition has since been reclassified and merged into the broader BPES entity. BPES is a rare congenital condition primarily affecting the eyes and eyelids, characterized by four major features: blepharophimosis (narrowing of the horizontal eyelid opening), ptosis (drooping of the upper eyelids), epicanthus inversus (skin folds arising from the lower eyelids), and telecanthus (increased distance between the inner corners of the eyes). BPES exists in two forms: Type I, which includes premature ovarian insufficiency leading to female infertility, and Type II, which involves only the eyelid features without ovarian dysfunction. In cases attributed to copy number variations, the genetic mechanism involves deletions or duplications encompassing or disrupting the FOXL2 gene or its regulatory regions, rather than point mutations within the gene itself. The condition is typically inherited in an autosomal dominant pattern, though de novo copy number changes can also occur. Management of BPES generally involves surgical correction of the eyelid abnormalities, usually performed in early childhood to improve vision and cosmetic appearance. For women with Type I BPES, reproductive counseling and fertility management may be necessary. Because this Orphanet entry is now obsolete, patients and clinicians should refer to the main BPES classification (Orphanet code 126) for current clinical and genetic information.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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