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Johanson-Blizzard syndrome

Orpha number ORPHA2315
Synonym(s) -
Prevalence -
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q87.8
ICD-O -
OMIM
UMLS
  • C0175692
MeSH
  • C535880
MedDRA -
SNOMED CT
  • 75979009

Summary

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
  • EN (2013,pdf)
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