Johanson-Blizzard syndrome (JBS)

What is Johanson-Blizzard syndrome (JBS)?

This rare disease is a genetic syndrome. Symptoms of the syndrome usually affect multiple parts of the body. These symptoms are known to vary between individuals.

One of the defining symptoms of the syndrome is pancreatic insufficiency, an abnormality with the pancreas triggers an inability from the intestine to absorb fats and other important nutrients that affect the development of the body.

What gene changes cause Johanson-Blizzard syndrome (JBS)?

Changes to the UBR1 gene cause the syndrome. It is inherited in an autosomal recessive pattern.

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.

What are the main symptoms of Johanson-Blizzard syndrome (JBS)?

The main symptoms of the syndrome include the failure of the pancreas to absorb essential nutrients leads to a failure to thrive in many individuals, as well as a short stature, and a low weight.

Other symptoms include the uneven distribution of hair on the body, as well as alopecia which is hair loss.

A short nose and undeveloped nostril tissue are unique facial features of the syndrome

How does someone get tested for Johanson-Blizzard syndrome (JBS)?

The initial testing for Johanson-Blizzard 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!