Johanson Blizzard syndrome

Common Name(s)

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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Johanson Blizzard syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Johanson Blizzard syndrome" returned 12 free, full-text research articles on human participants. First 3 results:

Johanson-Blizzard syndrome: expanding the phenotype of exocrine pancreatic insufficiency.
 

Author(s): Kate M Ellery, Steven H Erdman

Journal:

 

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive syndrome characterized by dysmorphic nasal alae, ectodermal abnormalities, exocrine pancreatic insufficiency and early growth failure. Most patients are diagnosed by clinical criteria prenatally or in early infancy. Nonsense, ...

Last Updated: 31 Jul 2014

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Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation.
 

Author(s): C R Quaio, Y K Koda, D R Bertola, M Sukalo, M Zenker, C A Kim

Journal:

 

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disorder resulting from loss-of-function mutations in the UBR1 gene. JBS can be easily recognized by its unique clinical presentation (including exocrine pancreatic insufficiency, hypoplasia/aplasia of the alae nasi, congenital ...

Last Updated: 19 Jul 2014

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Johanson-blizzard syndrome.
 

Author(s): Koumudi Godbole, Sukalo Maja, Hiremath Leena, Zenker Martin

Journal: Indian Pediatr. 2013 May;50(5):510-2.

 

We present clinical features and genetic diagnosis in an Indian infant diagnosed with Johanson- Blizzard syndrome. This is a rare, autosomal recessive genetic condition with multi-system involvement and a characteristic facies. Molecular genetic testing is important to confirm the ...

Last Updated: 19 Jun 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Johanson Blizzard syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Johanson-Blizzard syndrome.
 

Author(s): J A Hurst, M Baraitser

Journal: J. Med. Genet.. 1989 Jan;26(1):45-8.

 

Last Updated: 6 Apr 1989

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.