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Johanson-Blizzard syndrome

Synonym(s) -
Prevalence -
Inheritance Autosomal recessive
Age of onset Infancy
  • Q87.8
  • C0175692
  • C535880
MedDRA -


Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hypoplasia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive.

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Detailed information

Guidance for genetic testing
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