Johanson-Blizzard Syndrome
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Johanson-Blizzard Syndrome Overview

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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
Maja Sukalo
Elite in Johanson-Blizzard Syndrome
Maja Sukalo
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, Ectodermal Dysplasias, and Clouston Syndrome.

Advanced in Johanson-Blizzard Syndrome
Dr. Alvaro H. Russi
Pediatrics
Advanced in Johanson-Blizzard Syndrome
Dr. Alvaro H. Russi
Pediatrics

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd, 
Johnson City, TN 
423-439-7320
Languages Spoken:
English
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. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. His top areas of expertise are Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication.

 
 
 
 
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Jie Sun
Experienced in Johanson-Blizzard Syndrome
Dr. Jie Sun
Pediatric Cardiology | Pediatrics
Experienced in Johanson-Blizzard Syndrome
Dr. Jie Sun
Pediatric Cardiology | Pediatrics

St. Christopher's Pediatric Associates Cardiology - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
215-427-4820
Languages Spoken:
English
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. Dr. Sun is rated as an Experienced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. Her top areas of expertise are Ventricular Septal Defects, Patent Ductus Arteriosus, Heart Murmurs, and Kawasaki Disease.

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