Johanson-Blizzard syndrome
Johanson-Blizzard syndrome
Definition
A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.
Also known as JBS, Johanson-Blizzard syndrome, pancreatic insufficiency, combined exocrine — per MONDO