Though BPES can be suggested by the presence of<unk> ,<unk>  and/or<unk><unk> , it can only be definitively diagnosed by genetic testing. Other disorders that appear similar include Waardenburg syndrome and Ohdo<unk>  syndrome.
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