Johanson-blizzard syndrome

Johanson-Blizzard syndrome is a disorder characterized by a thin, beak-like nose due to abnormalities in nostril development; coarse, thin scalp hair that grows in a distinctive upsweeping pattern; and abnormal development and functioning of the pancreas that results in a failure to grow and gain weight as expected. Approximately 60% of individuals with the disorder have a moderate developmental delay. Others may have a mild delay or normal intelligence. The range and severity of symptoms varies widely from case to case.


 


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