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Diseases » Borjeson Syndrome » Summary
 

What is Borjeson Syndrome?

What is Borjeson Syndrome?

  • Borjeson Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.

Borjeson Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Borjeson Syndrome, or a subtype of Borjeson 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 Borjeson Syndrome as a "rare disease".
Source - Orphanet

Borjeson Syndrome: Introduction

Types of Borjeson Syndrome:

Broader types of Borjeson Syndrome:

What causes Borjeson Syndrome?

Causes of Borjeson Syndrome: see causes of Borjeson Syndrome

What are the symptoms of Borjeson Syndrome?

Symptoms of Borjeson Syndrome: see symptoms of Borjeson Syndrome

Borjeson Syndrome: Testing

Diagnostic testing: see tests for Borjeson Syndrome.

Misdiagnosis: see misdiagnosis and Borjeson Syndrome.

How is it treated?

Doctors and Medical Specialists for Borjeson Syndrome: Medical Geneticist ; see also doctors and medical specialists for Borjeson Syndrome.
Treatments for Borjeson Syndrome: see treatments for Borjeson Syndrome

Name and Aliases of Borjeson Syndrome

Main name of condition: Borjeson Syndrome

Other names or spellings for Borjeson Syndrome:

Mental deficiency-epilepsy-endocrine disorders, Borjeson-Forssman-Lehmann syndrome, BFLS, BORJ

BFLS, BORJ, Borjeson-Forssman-Lehmann syndrome, Mental deficiency, epilepsy and endocrine disorders
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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