Blepharophimosis, Ptosis, and Epicanthus Inversus

A hereditary condition characterized by blepharophimosis, epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, and PTOSIS of the eyelids. In addition, affected females may present with urogenital abnormalities, low ESTROGEN and PROGESTERONE, and infertility due to PREMATURE OVARIAN FAILURE in Type I BPES. Mutations in the FOXL2 gene have been identified. OMIM: 110100

Source last updated 2026-05-24T15:30:09.092Z