BPES syndrome

[MIM 110 100]

Acronym for Blepharophimosis-Ptosis-Epicanthus inversus Syndrome.

Rare. Autosomal dominant transmission of a mutation of the FOXL2 gene on 3q22.3. As suggested by the name, it consists essentially in anomalies of the eyelids:

-        ptosis

-        blepharophimosis

-        inverse epicanthus: a skin fold with external concavity comes from the lower eyelid and partly covers the internal part of the upper eyelid.

Sometimes also: microphthalmos, myopia, strabismus, optic nerve hypoplasia.


Two different types:

-        type I, where ocular anomalies are associated with early menopause by ovarian failure ( hypergonadotrophic hypogonadism with premature menopause)

-        type II where ocular anomalies are isolated.

Facial anomalies are often associated: flat nasal bridge, small mouth opening, arched palate.


Anesthetic implications:

risk of difficult intubation


References : 

-         Baidya DK, Khanna P, Kumar A, Shende D.
Successful anesthetic management of a child with blepharophimosis syndrome and atrial septal defect for reconstructive ocular surgery.
J Anaesthesiol Clin Pharmacol 2011; 27: 550-2.


Updated: November 2019