Johanson-Blizzard syndrome
Alerts and Notices
Synopsis

Infants will often present with failure to gain weight and, as time progresses, will have delays in achieving developmental milestones and eventually exhibit short stature. Pancreatic abnormalities lead to enzyme deficiencies causing severe malabsorption. In some cases, malabsorption proves fatal despite medical treatment. Treatment includes pancreatic enzymes and vitamin supplements.
Codes
ICD10CM:Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified
SNOMEDCT:
75979009 – Johanson-Blizzard Syndrome
Look For
Subscription Required
Diagnostic Pearls
Subscription Required
Differential Diagnosis & Pitfalls
- Shwachman-Diamond syndrome
- Isolated pancreatic insufficiency
- Cystic fibrosis
- Pearson marrow-pancreas syndrome
- Congenital pancreatic agenesis
Best Tests
Subscription Required
Management Pearls
Subscription Required
Therapy
Subscription Required
References
Subscription Required
Last Reviewed:01/09/2018
Last Updated:06/26/2022
Last Updated:06/26/2022