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Genetic and Rare Diseases Information Center (GARD)

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Johanson Blizzard syndrome

Other Names for this Disease
  • JBS
  • Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness
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Your Questions Answered

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  • My younger son has Johanson Blizzard syndrome. He has arrested growth, hearing loss, some teeth disappearance and pancreatic insufficiency. He was also diagnosed with pure red cell aplasia. How can we help pancreatic insufficiency, which helps with growth? Is there any help for hearing impairment? Click here for answer