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. The disease is Johanson-Blizzard syndrome (Monarch Disease Ontology identifier MONDO_0009479). Also known as: JBS, pancreatic insufficiency, combined exocrine.