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Johanson Blizzard syndrome
Other Names for this Disease
- Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness
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.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);
Last updated: 5/4/2012
- Johanson-Blizzard Syndrome. NORD. September 10, 2010; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1089/viewAbstract. Accessed 5/4/2012.
- 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.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- 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.