Blepharophimosis–ptosis–epicanthus inversus syndrome

Also known as: BPES

Eyelid malformation with premature ovarian insufficiency in type I.

Medical specialty: Ophthalmology
Subspecialty: Ophthalmology / Orbit and oculoplastics
Sex & age distribution: Male: affected, eyelid features only; Female: affected, with ovarian insufficiency in type I; Children: yes, congenital
Gene(s) involved: FOXL2

Etiology & mechanism

Dominant FOXL2 haploinsufficiency.

Gene(s) involved (1)

FOXL2

Symptoms & signs (6)

amblyopiablepharophimosisepicanthus inversusinfertility in womenptosistelecanthus

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.