Borjeson-Forssman-Lehmann syndrome (BFLS)

What is Borjeson-Forssman-Lehmann syndrome (BFLS)?

This rare disease is a genetic condition which, due to the way it is inherited, affects mainly males.

There are 40 recorded cases to date but this number is believed to be higher.

The main symptoms of the syndrome include unique facial features, and intellectual disability.

What gene changes cause Borjeson-Forssman-Lehmann syndrome (BFLS)?

Changes to the PHF gene on the X chromosome are responsible for the syndrome. As an x-linked recessive condition, it affects mainly males.

However females have been recorded as presenting with some of the features of the condition, although in general they are just carriers.

Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.

What are the main symptoms of Borjeson-Forssman-Lehmann syndrome (BFLS)?

The symptoms may vary widely between individuals, and even within individuals from the same family. There is some evidence to suggest that in some individuals symptoms may become milder with age.

Unique facial features of the syndrome include a coarse face, droopy eyelids, deep set eyes, large and fleshy earlobes. Issues with the optic nerve and connective tissue may cause cataracts and farsightedness in adults with the condition.

Other symptoms of the syndrome include intellectual disability and developmental delay.

Obesity, seizures and the failure of the testes and ovaries to produce hormones are also symptoms. This in turn leads to a short stature.

How does someone get tested for Borjeson-Forssman-Lehmann syndrome (BFLS)?

The initial testing for Borjeson-Forssman-Lehmann 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."

Image

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

Credibility

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

Accessibility

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
Money

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!