Johanson-Blizzard syndrome (JBS)

Pathology

• intrauterine-onset destructive pancreatitis

Genetics

• defects in UBR1 gene

Clinical manifestations

• hypoplasia of the nasal alar process
• hypothyroidism
• pancreatic achylia, congenital (exocrine insufficiency)
• congenital exocrine
• mental retardation (frequent)

More general terms

• developmental disorder
• syndrome

Database

• OMIM: https://mirror.omim.org/entry/243800