Learn About Johanson-Blizzard Syndrome

What is the definition of Johanson-Blizzard Syndrome?
Johanson-Blizzard syndrome (JBS) is a very rare condition that affects multiple parts of the body. The severity, signs and symptoms of JBS may vary among affected individuals. Characteristic features include intestinal malabsorption of fats and other nutrients due to abnormal development of the pancreas (pancreatic insufficiency); failure to thrive, contributing to short stature; abnormalities of permanent teeth; distinctive skull and facial features; and/or varying degrees of intellectual disability. JBS can be caused by changes in the UBR1 gene and is inherited in an autosomal recessive manner.
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What are the alternative names for Johanson-Blizzard Syndrome?
  • Johanson-Blizzard syndrome
  • JBS
  • Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Johanson-Blizzard Syndrome?

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