Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare and complex eyelid malformation that is inherited as an autosomal dominant trait. The main four features of this disorder are blepharophimosis (eyelids that are abnormally narrow horizontally), epicanthus inversus (a vertical fold of skin from the lower eyelid up either side of the nose), ptosis (drooping of the upper eyelids), and telecanthus (increased distance between inner canthi). There are thought to be two types of the syndrome. Type I BPES includes the four major features and may involve female infertility. However, type II BPES is not associated with female infertility and includes only the four major features. Prevalence, although not evaluated accurately, is probably less than 1:5,000. Eyelid surgery could improve ptosis.
FOXL2 is the only gene currently known to be associated with BPES. About 50% of cases are due to de novo mutations.