NIH
Zebra of the Week: Johanson-Blizzard syndrome
Johanson-Blizzard syndrome (JBS) is an extremely rare genetic disorder that affects multiple organ systems. It's characterized by a range of symptoms including pancreatic insufficiency, distinctive facial features, and intellectual disability. The severity and specific manifestations of JBS can vary widely among affected individuals. The condition is caused by mutations in the UBR1 gene, which plays a role in protein degradation, and is inherited in an autosomal recessive manner. Symptoms of JBS can be present at birth or develop in early childhood. There's no cure for JBS, but treatment focuses on managing symptoms and improving quality of life. This may include enzyme replacement therapy for pancreatic insufficiency, nutritional support, hearing aids, and educational interventions.
Source:
NIH GARD. (Accessed 2025, April 11). Johanson-blizzard syndrome. https://rarediseases.info.nih.gov/diseases/80/johanson-blizzard-syndrome