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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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Overview
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]
References
- Johanson-Blizzard Syndrome. NORD. http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1089/viewAbstract. Accessed May 4, 2012.
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General Information
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Johanson Blizzard syndrome. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Johanson Blizzard syndrome. Click on the link to go to OMIM and review these resources.