Alerts and Notices
SynopsisJohanson-Blizzard syndrome is a very rare multisystem autosomal recessive disorder of ectodermal dysplasia that presents with a wide variety of symptoms. The most common symptoms include exocrine pancreatic insufficiency, a beak-shaped nose, alopecia, short stature, and abnormalities of the permanent teeth. Other signs and symptoms include poor growth, malabsorption, hypothyroidism, failure to thrive, aplasia cutis congenital (abnormal pattern of hair growth), developmental delay, sensorineural deafness, and anorectal / genitourinary anomalies. Onset of symptoms occurs shortly after birth or in early infancy.
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
- Shwachman-Diamond syndrome
- Isolated pancreatic insufficiency
- Cystic fibrosis
- Pearson marrow-pancreas syndrome
- Congenital pancreatic agenesis