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What is Johanson-Blizzard Syndrome?

What is Johanson-Blizzard Syndrome?

  • Johanson-Blizzard Syndrome: A rare genetic disorder involving a range of abnormalities including a characteristic beak-like small nose, hypothyroidism and deafness.
  • Johanson-Blizzard Syndrome: Aplasia of the alae nasi, hearing disorders, hypothyroidism, dwarfism, absent permanent teeth, malabsorption, and mental retardation.
    Source - Diseases Database

Johanson-Blizzard Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Johanson-Blizzard Syndrome, or a subtype of Johanson-Blizzard Syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Johanson-Blizzard Syndrome as a "rare disease".
Source - Orphanet

Johanson-Blizzard Syndrome: Introduction

Types of Johanson-Blizzard Syndrome:

Broader types of Johanson-Blizzard Syndrome:

How serious is Johanson-Blizzard Syndrome?

Complications of Johanson-Blizzard Syndrome: see complications of Johanson-Blizzard Syndrome

What causes Johanson-Blizzard Syndrome?

Causes of Johanson-Blizzard Syndrome: see causes of Johanson-Blizzard Syndrome

What are the symptoms of Johanson-Blizzard Syndrome?

Symptoms of Johanson-Blizzard Syndrome: see symptoms of Johanson-Blizzard Syndrome

Complications of Johanson-Blizzard Syndrome: see complications of Johanson-Blizzard Syndrome

Johanson-Blizzard Syndrome: Testing

Diagnostic testing: see tests for Johanson-Blizzard Syndrome.

Misdiagnosis: see misdiagnosis and Johanson-Blizzard Syndrome.

How is it treated?

Doctors and Medical Specialists for Johanson-Blizzard Syndrome: Medical Geneticist ; see also doctors and medical specialists for Johanson-Blizzard Syndrome.
Treatments for Johanson-Blizzard Syndrome: see treatments for Johanson-Blizzard Syndrome
Research for Johanson-Blizzard Syndrome: see research for Johanson-Blizzard Syndrome

Name and Aliases of Johanson-Blizzard Syndrome

Main name of condition: Johanson-Blizzard Syndrome

Other names or spellings for Johanson-Blizzard Syndrome:

JBS, Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, Congenital Deafness, Ectodermal Dysplasia-Exocrine Pancreatic Insufficiency, Malabsorption-Ectodermal Dysplasia-Nasal Alar Hypoplasia

Ectodermal Dysplasia-Exocrine Pancreatic Insufficiency, JBS, Malabsorption-Ectodermal Dysplasia-Nasal Alar Hypoplasia, Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, Congenital Deafness
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Johanson-Blizzard Syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Johanson-Blizzard Syndrome:

 

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