Learn About Johanson-Blizzard Syndrome

What is the definition of 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. 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 changes in the UBR1 gene and is inherited in an autosomal recessive manner.
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What are the alternative names for Johanson-Blizzard Syndrome?
  • Johanson-Blizzard syndrome
  • JBS
  • Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness
Who are the top Johanson-Blizzard Syndrome Local Doctors?
MS
Maja Sukalo
Elite
Highly rated in
8
conditions

University Hospital Magdeburg

Department Of Oral And Maxillo Facial Surgery, 
Magdeburg, ST, DE 

Maja Sukalo practices in Magdeburg, Germany. Sukalo is rated as an Elite expert by MediFind in the treatment of Johanson-Blizzard Syndrome. She is also highly rated in 8 other conditions, according to our data. Her top areas of expertise are Ectodermal Dysplasia Neurosensory Deafness, Johanson-Blizzard Syndrome, Aplasia Cutis Congenita, and Clouston Syndrome.

MZ
Martin Zenker
Distinguished
Highly rated in
62
conditions

University Hospital Magdeburg

Leipziger Str. 44, 
Magdeburg, ST, DE 

Martin Zenker practices in Magdeburg, Germany. Zenker is rated as a Distinguished expert by MediFind in the treatment of Johanson-Blizzard Syndrome. He is also highly rated in 62 other conditions, according to our data. His top areas of expertise are RASopathies, Noonan Syndrome, Syndactyly, and Acromicric Dysplasia.

 
 
 
 
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NR
Nima M. Rezaei
Distinguished
Highly rated in
61
conditions

Research Center For Immunodeficiencies

Cancer Immunology Project, 
Tehran, IR 

Nima Rezaei practices in Tehran, Islamic Republic of Iran. Rezaei is rated as a Distinguished expert by MediFind in the treatment of Johanson-Blizzard Syndrome. They are also highly rated in 61 other conditions, according to our data. Their top areas of expertise are Common Variable Immune Deficiency, Primary Immunodeficiency (PID), Sutton Disease 2, Bone Marrow Aspiration, and Bone Marrow Transplant.

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Johanson-Blizzard Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.