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.
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified
75979009 – Johanson-Blizzard Syndrome
Differential Diagnosis & Pitfalls