What is Johanson-Blizzard syndrome?

Johanson-Blizzard syndrome is a rare inherited disorder that affects a number of body systems. Children born with Johanson-Blizzard syndrome will have poor growth and developmental delays.

An estimated 1 in 250,000 babies is born with Johanson-Blizzard syndrome.

Signs and Symptoms of Johanson-Blizzard syndrome

Some common signs of Johanson-Blizzard syndrome include:

• Pancreatic insufficiency with fatty diarrhea
• Poor growth
• Developmental delay
• Hearing loss
• Dysmorphic features:
  • Abnormal nasal folds (often described as looking like a bird’s beak)
  • Abnormal hair patterns
  • Failure of teeth to grow and develop

Other signs may include:

• Hypothyroidism
• Urogenital malformations
• Imperforate anus

Causes of Johanson-Blizzard syndrome

Johanson-Blizzard syndrome is an autosomal recessive disease, which means both parents must pass a copy of the gene variant (mutation) to their child. When both parents carry the gene variant that causes Johanson-Blizzard syndrome, each of their children has a 1 in 4 chance of being born with the disorder.

Testing and diagnosis of Johanson-Blizzard syndrome

Johanson-Blizzard syndrome is suspected based on the signs and symptoms, some of which are listed above, that present shortly after birth. Genetic testing is used to confirm a diagnosis of Johanson-Blizzard syndrome.

Treatment of Johanson-Blizzard syndrome

The main goals in treating Johanson-Blizzard syndrome are to ensure adequate nutrition for growth, development, and optimal quality of life. Pancreatologists and registered dietitians work together to optimize your child’s calorie intake. Pancreatic enzyme replacement therapy is used to provide the digestive enzymes that the pancreas is not producing. Additional specialists will help depending on your child’s needs, addressing hearing loss, developmental delay, and any urogenital or anorectal malformations that are present.

At Children's Hospital of Philadelphia (CHOP), children with Johanson-Blizzard are evaluated and treated by doctors in the Pancreatic Disorders Program in the Division of Gastroenterology, Hepatology and Nutrition.