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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.
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?
Elite in Johanson-Blizzard Syndrome
Elite in Johanson-Blizzard Syndrome
Magdeburg, ST, DE 

Maja Sukalo practices in Magdeburg, Germany. Ms. Sukalo is rated as an Elite expert by MediFind in the treatment of Johanson-Blizzard Syndrome. Her top areas of expertise are Johanson-Blizzard Syndrome, Ectodermal Dysplasia Neurosensory Deafness, Clouston Syndrome, and Ectodermal Dysplasias.

Philip L. Goolsby
Experienced in Johanson-Blizzard Syndrome
Family Medicine
Experienced in Johanson-Blizzard Syndrome
Family Medicine

Aurora Family Medicine

1565 Allouez Ave, 
Green Bay, WI 
Languages Spoken:
English

Philip Goolsby is a primary care provider, practicing in Family Medicine in Green Bay, Wisconsin. Dr. Goolsby is rated as an Experienced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. His top areas of expertise are Monoclonal Gammopathy of Undetermined Significance (MGUS), Schnitzler Syndrome, Movement Disorders, and Parkinson's Disease.

 
 
 
 
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David S. Stolp
Experienced in Johanson-Blizzard Syndrome
Family Medicine
Experienced in Johanson-Blizzard Syndrome
Family Medicine

Aurora Family Medicine

2424 S 90th St, Ste 200, 
West Allis, WI 
Languages Spoken:
English

David Stolp is a primary care provider, practicing in Family Medicine in West Allis, Wisconsin. Dr. Stolp is rated as an Experienced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. His top areas of expertise are Cerebral Palsy, Floating-Harbor Syndrome, Cardiomyopathy Hypogonadism Metabolic Anomalies, and Ruvalcaba Syndrome.

What are the latest Johanson-Blizzard Syndrome Clinical Trials?
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center