Ever hear of Johanson Blizzard syndrome?

Ever hear of Johanson Blizzard syndrome?

A rare condition that affects the pancreas


Johanson-Blizzard Syndrome (JBS) is an inherited and quite rare condition that affects the pancreas. The parents don't have JBS, but they each have an abnormal gene (the UBR1 gene) that they pass on to the child. Those two genes together provide instructions to the body to produce a protein that interferes with the function of the pancreas. As a result they develop EPI (exocrine pancreatic insufficiency). The EPI causes malabsorption, poor weight gain and poor growth. Fortunately, they usually respond to pancreatic enzyme replacement therapy (PERT) to help with absorption of fat and other nutrients . Vitamin supplements are usually needed as well.

They are often recognizable to particular abnormalities in the ways their teeth, head and face grows. They usually have a distinct hair patterns and problems learning. Treatment focuses on symptoms present in each individual. If they have a low thyroid (hypothyroidism), they may need thyroid hormone replacement therapy. Those with bone, heart, and kidney abnormalities may need surgery.

Johanson Blizzard syndrome