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.

Get Faster and More Accurate Genetic Diagnosis!

More than 250,000 patients successfully analyzed!
Don't wait years for a diagnosis. Act now and save valuable time.

Start Here!

"Our road to a rare disease diagnosis was a 5-year journey that I can only describe as trying to take a road trip with no map. We didn’t know our starting point. We didn’t know our destination. Now we have hope."


Paula and Bobby
Parents of Lillie

What is FDNA Telehealth?

FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.

Benefits of FDNA Telehealth


Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.


FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.

Ease of Use

Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.

Accuracy & Precision

Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.

Value for

Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.

Privacy & Security

We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.

FDNA Telehealth can bring you closer to a diagnosis.
Schedule an online genetic counseling meeting within 72 hours!