BPES is caused by a mutation in the gene FOXL2, located at 3q23 (band 23 on the long arm of chromosome 3). There are two types, caused by different mutations in this gene, but both follow an autosomal dominant pattern of inheritance.
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