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 practicing medicine in Magdeburg, Germany. Ms. 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 clinical expertise encompasses 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. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.

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Experienced in Johanson-Blizzard Syndrome

Dr. Donald J. Weaver

Pediatric Nephrology

Experienced in Johanson-Blizzard Syndrome

Dr. Donald J. Weaver

Pediatric Nephrology

Atrium Health Levine Children's Nephrology

1001 Blythe Blvd., Suite C,

Charlotte, NC

704-381-8800

Languages Spoken:

English

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Accepting New Patients

Offers Telehealth

Donald Weaver is a Pediatric Nephrologist practicing medicine in Charlotte, North Carolina. Dr. Weaver is rated as an Experienced provider by MediFind in the treatment of Johanson-Blizzard Syndrome. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Posterior Urethral Valves, Togaviridae Disease, Feingold Syndrome, and Congenital Nephrotic Syndrome. Dr. Weaver is board certified in American Board Of Pediatrics and American Board Of Pediatrics, Pediatric Nephrology. Dr. Weaver is currently accepting new patients.