The most prominent symptoms of BPES are horizontally narrow eyes<unk> , drooping eyelids<unk>  and a fold of skin running from the side of the nose to the lower eyelid<unk><unk> . Other common symptoms include lack of an eyelid fold, an appearance of widely spaced eyes (telecanthus), low nose bridge and ear malformations (including cupping and incomplete development). Rare symptoms include microphthalmos (abnormally small eyes), tear ducts in the wrong location and a high-arched palate. Type 1 BPES is distinguished by including premature ovarian insufficiency (POI) in females, which causes menopausal symptoms and infertility in patients as young as 15 years old.
Blepharophimosis, ptosis, epicanthus inversus syndrome
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
Acro–dermato–ungual–lacrimal–tooth syndrome
Abadie's sign of exophthalmic goiter
Supernumerary nipples–uropathies–Becker's nevus syndrome
Hutchinson's facies
Cruveilhier–Baumgarten bruit
Epilepsy-intellectual disability in females