Blepharophimosis, Ptosis, and Epicanthus Inversus (BPES)

What is Blepharophimosis, Ptosis, and Epicanthus Inversus (BPES)?

This rare disease is a developmental condition usually recognizable at birth due to its unique facial features relating mainly to the eyes.

There are two types of the disease, type 1 and type 2.

What gene changes cause Blepharophimosis, Ptosis, and Epicanthus Inversus (BPES)?

Changes to the FOXL2 gene on chromosome 3 are responsible for causing the syndrome.

The disease can be inherited in an autosomal recessive, autosomal dominant or be a de novo mutation in a family.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.


Autosomal Dominant
In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Blepharophimosis, Ptosis, and Epicanthus Inversus (BPES)?

The main features of the syndrome are present at birth and include the following:

Narrow eyes
Droopy eyelids
Widely set eyes
An upward fold of the skin on the inner lower eyelids

The Type 1 form of the syndrome includes premature ovarian failure as well as these main four symptoms. Type 2 does not include premature ovarian failure.

How does someone get tested for Blepharophimosis, Ptosis, and Epicanthus Inversus (BPES)?

The initial testing for Blepharophimosis, Ptosis, and Epicanthus Inversus (BPES) syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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