Save information for later
Sign Up

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, Aplasia Cutis Congenita, and Ectodermal Dysplasias.

Advanced in Johanson-Blizzard Syndrome
Hematology Oncology | Hematology | Oncology
Advanced in Johanson-Blizzard Syndrome
Hematology Oncology | Hematology | Oncology

Wk Hematology Oncology Associates

2600 Kings Hwy, Suite 340, 
Shreveport, LA 
Languages Spoken:
English
Accepting New Patients

Joyce Feagin is a Hematologist Oncology specialist and a Hematologist in Shreveport, Louisiana. Dr. Feagin is rated as an Advanced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. Her top areas of expertise are Inflammatory Breast Cancer, Colorectal Cancer, Familial Colorectal Cancer, and Paget Disease of the Breast. Dr. Feagin is currently accepting new patients.

 
 
 
 
Learn about our expert tiers
Learn More
Cheng Her
Experienced in Johanson-Blizzard Syndrome
Family Medicine
Experienced in Johanson-Blizzard Syndrome
Family Medicine

Viaro Professional Arts Ltd Health Care

230 Pine St, 
La Crosse, WI 
Languages Spoken:
English

Cheng Her is a primary care provider, practicing in Family Medicine in La Crosse, Wisconsin. Dr. Her is rated as an Experienced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. His top areas of expertise are Cerebral Palsy, Char Syndrome, Vici Syndrome, and Cohen Syndrome.

What are the latest Johanson-Blizzard Syndrome Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
Who are the sources who wrote this article ?

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