Diseases List

Johanson-Blizzard Syndrome

Johanson-Blizzard syndrome (JBS) is an extremely rare genetic disorder that affects multiple organ systems of the body. Many symptoms are present at birth (congenital) or early childhood. Characteristic features include insufficient intestinal absorption (malabsorption) of fats and other nutrients due to abnormal development of the pancreas (pancreatic insufficiency); failure to grow and gain weight at the expected rate (failure to thrive) during the first years of life, contributing to short stature; abnormalities of permanent teeth; distinctive abnormalities of the skull and facial (craniofacial) region including a small "beak-shaped" nose; and/or varying degrees of intellectual disability.

Associated Genes