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What is Bardet-Biedl Syndrome?

What is Bardet-Biedl Syndrome?

  • Bardet-Biedl Syndrome: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities.
  • Bardet-Biedl Syndrome: A syndrome characterized mainly by obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism, and renal failure in fatal cases. Two forms have been identified: Bardet-Biedl syndrome 1 (BBS1) has no linkage to chromosome 16 Bardet-Biedl syndrome 2 (BBS2) is mapped to markers on chromosome 16. Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet syndrome are no longer considered as valid terms in that patients of Laurence and Moon had paraplegia but no polydactyly and obesity which are the key elements of the Bardet-Biedl the syndrome. Laurence-Moon syndrome is a separate entity.
    Source - Diseases Database

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

Bardet-Biedl Syndrome: Introduction

Types of Bardet-Biedl Syndrome:

Broader types of Bardet-Biedl Syndrome:

How serious is Bardet-Biedl Syndrome?

Complications of Bardet-Biedl Syndrome: see complications of Bardet-Biedl Syndrome

What causes Bardet-Biedl Syndrome?

Causes of Bardet-Biedl Syndrome: see causes of Bardet-Biedl Syndrome

What are the symptoms of Bardet-Biedl Syndrome?

Symptoms of Bardet-Biedl Syndrome: see symptoms of Bardet-Biedl Syndrome

Complications of Bardet-Biedl Syndrome: see complications of Bardet-Biedl Syndrome

Bardet-Biedl Syndrome: Testing

Diagnostic testing: see tests for Bardet-Biedl Syndrome.

Misdiagnosis: see misdiagnosis and Bardet-Biedl Syndrome.

How is it treated?

Doctors and Medical Specialists for Bardet-Biedl Syndrome: Medical Geneticist, Ophthalmologist ; see also doctors and medical specialists for Bardet-Biedl Syndrome.
Treatments for Bardet-Biedl Syndrome: see treatments for Bardet-Biedl Syndrome
Research for Bardet-Biedl Syndrome: see research for Bardet-Biedl Syndrome

Name and Aliases of Bardet-Biedl Syndrome

Main name of condition: Bardet-Biedl Syndrome

Other names or spellings for Bardet-Biedl Syndrome:

BBS, Biedl-Bardet Syndrome

BBS, Biedl-Bardet Syndrome
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Bardet-Biedl Syndrome: Related Conditions

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

 

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