National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Johanson-Blizzard Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Johanson-Blizzard syndrome (JBS) is an extremely rare genetic disorder that affects multiple organ systems of the body. Many symptoms are present at birth (congenital) or early childhood. The spectrum of potential features and physical findings associated with JBS is wide and varied and can differ dramatically from one person to another. However, characteristic features include insufficient intestinal absorption (malabsorption) of fats and other nutrients due to abnormal development of the pancreas (pancreatic insufficiency); failure to grow and gain weight at the expected rate (failure to thrive) during the first years of life, contributing to short stature; abnormalities of permanent teeth; distinctive abnormalities of the skull and facial (craniofacial) region including a small "beak-shaped" nose; and/or varying degrees of intellectual disability. JBS is caused by mutations to the UBR1 gene. This genetic mutation is inherited as an autosomal recessive trait.
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National Foundation for Ectodermal Dysplasias
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Fairview Hiights, IL 62208
March of Dimes Birth Defects Foundation
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FACES: The National Craniofacial Association
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Restricted Growth Association
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NIH/National Institute of Diabetes, Digestive & Kidney Diseases
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Genetic and Rare Diseases (GARD) Information Center
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Ectodermal Dysplasia Society
Unit 1 Maida Vale Business Centre
England, GL53 7ER
Hearing Loss Association of America
7910 Woodmont Avenue
Bethesda, MD 20814
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
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Last Updated: 2/26/2013
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