Johanson-Blizzard Syndrome Symptoms, Doctors, Treatments, Advances & More

Johanson-Blizzard Syndrome Overview

Definition
Alternate Names
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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 and 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.

Advanced in Johanson-Blizzard Syndrome

Dr. Cheng Her

Family Medicine

Advanced in Johanson-Blizzard Syndrome

Dr. Cheng Her

Family Medicine

Viaro Professional Arts Ltd Health Care

230 Pine St,

La Crosse, WI

608-668-2103

Languages Spoken:

English

Cheng Her is a Family Medicine provider in La Crosse, Wisconsin. Dr. Her and is rated as an Advanced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. His top areas of expertise are Hypomelanosis of Ito, Familial Hypertriglyceridemia, Jackson-Weiss Syndrome, and Koolen De Vries Syndrome.

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Advanced in Johanson-Blizzard Syndrome

Dr. Christopher R. Thomas

Hematology Oncology | Hematology | Oncology

Advanced in Johanson-Blizzard Syndrome

Dr. Christopher R. Thomas

Hematology Oncology | Hematology | Oncology

Prisma Health University Medical Group

22725 Hwy 76 E,

Clinton, SC

864-938-2879

Languages Spoken:

English

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Christopher Thomas is a Hematologist Oncology specialist and a Hematologist in Clinton, South Carolina. Dr. Thomas and is rated as an Advanced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. His top areas of expertise are Childhood Iron Deficiency Anemia, Colorectal Cancer, Iron Deficiency Anemia, and Familial Colorectal Cancer. Dr. Thomas is currently accepting new patients.