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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is Johanson Blizzard syndrome?

How might Johanson Blizzard syndrome be treated?

What is Johanson Blizzard syndrome?

Johanson Blizzard syndrome (JBS) is a very rare condition that affects multiple parts of the body. The severity, signs and symptoms of JBS may vary among affected individuals. Many symptoms are present at birth or early childhood. Characteristic features include intestinal malabsorption of fats and other nutrients due to abnormal development of the pancreas (pancreatic insufficiency); failure to thrive, contributing to short stature; abnormalities of permanent teeth; distinctive skull and facial features; and/or varying degrees of intellectual disability. JBS can be caused by mutations in the UBR1 gene and is inherited in an autosomal recessive manner.[1]
Last updated: 5/4/2012

How might Johanson Blizzard syndrome be treated?

The treatment of Johanson Blizzard syndrome focuses on the specific symptoms that are present in each individual. Those with pancreatic insufficiency may require pancreatic enzyme supplements (e.g., oral pancreatin) to promote proper absorption of fats and other necessary nutrients. Vitamin supplements may also be needed to prevent or treat vitamin deficiencies that may result from malabsorption due to pancreatic insufficiency. A special diet with easily-absorbed, high-protein supplements may also be prescribed to ensure that total nutritional requirements are met. Although these therapies usually lead to improved nutrient absorption and weight gain, most affected children still remain smaller and shorter than average for their ages.

Individuals with hypothyroidism may need thyroxine hormone replacement therapy. Other abnormalities such as craniofacial, genitourinary, cardiac, and/or other malformations associated with the condition may be treated with surgery. Dental abnormalities may be treated with bonding agents, use of dentures, and/or other techniques. Hearing loss may be treated with hearing aids. Early intervention is important to ensure that children with JBS reach their full potential. Affected children may benefit from special remedial education, special social support, and other medical, social, and/or vocational services.
Last updated: 5/4/2012

References
  1. Johanson-Blizzard Syndrome. NORD. September 10, 2010; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1089/viewAbstract. Accessed 5/4/2012.


Other Names for this Disease
  • JBS
  • Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.