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Blepharophimosis syndrome is genetically and phenotypically distinct from simple congenital ptosis and consists of a constellation of clinical findings. Approximately 75% of cases have a positive family history, and inheritance is usually autosomal dominant. Patients typically present early in life with a short horizontal palpebral fissure, upper eyelid ptosis, telecanthus, an epicanthal inversus type of epicanthal fold, and refractive errors. Treatment usually involves surgery to address the various anatomical components as needed to restore function and cosmesis.

Blepharophimosis syndrome with ptosis, telecanthus, and epicanthus inversus
Marked ptosis and epicanthus in blepharophimosis syndrome
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