BPES (Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome) is a rare genetic disorder that affects the eyelids and eyebrows. It is characterized by small and narrow eyelid openings (blepharophimosis), drooping eyelids (ptosis), and inward-facing folds of skin on the upper eyelids (epicanthus inversus). People with BPES often have a low-set hairline, small ears, and a shortened distance between their nose and upper lip. The syndrome is caused by mutations in the FOXL2 gene, and it is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed to develop the condition. BPES can result in functional problems such as visual impairment or difficulty with eye closure, as well as psychological challenges due to the characteristic facial appearance. Treatment often involves surgical correction of eyelid and eyebrow function or appearance.
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