BPES is very rare: only 50–100 cases have been described. It affects slightly more males than females.
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