Paula and Bobby
Parents of Lillie
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.
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.
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Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.
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Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.
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