Bardet Biedl syndrome

Bardet-Biedl syndrome
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Obesity, retinal degeneration, polydactyly, kidney abnormalities, learning difficulties
Complications	N/A
Onset	Childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutations
Risks	Family history
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management
Medication	N/A
Prognosis	Variable
Frequency	Rare
Deaths	N/A

Bardet-Biedl syndrome (BBS) is a rare genetic disorder that affects multiple body systems. It is characterized by a combination of symptoms including obesity, retinal degeneration, polydactyly, kidney abnormalities, and learning difficulties. The syndrome is named after Georges Bardet and Arthur Biedl, who first described the condition in the early 20th century.

Genetics

Bardet-Biedl syndrome is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. The syndrome is genetically heterogeneous, with mutations in at least 21 different genes known to cause the condition. These genes are involved in the function of cilia, which are hair-like structures on the surface of cells that play a crucial role in cell signaling and sensory perception.

Clinical Features

The clinical presentation of Bardet-Biedl syndrome is highly variable, but the following features are commonly observed:

• Obesity: Individuals with BBS often develop obesity in childhood, which can lead to complications such as type 2 diabetes and cardiovascular disease.
• Retinal degeneration: Progressive loss of vision due to retinitis pigmentosa is a hallmark of BBS, often leading to blindness in adulthood.
• Polydactyly: Extra fingers or toes are present in many individuals with BBS.
• Kidney abnormalities: Structural and functional kidney problems are common and can lead to chronic kidney disease.
• Learning difficulties: Many individuals with BBS have developmental delays and learning disabilities.

Diagnosis

Diagnosis of Bardet-Biedl syndrome is based on clinical evaluation and genetic testing. The presence of characteristic features such as obesity, retinal degeneration, and polydactyly can suggest the diagnosis, which can be confirmed by identifying mutations in one of the BBS genes through genetic testing.

Management

There is no cure for Bardet-Biedl syndrome, and treatment is focused on managing the symptoms and preventing complications. This may include:

• Weight management: Diet and exercise programs to control obesity.
• Vision care: Regular ophthalmologic evaluations and supportive measures for vision loss.
• Kidney monitoring: Regular assessment of kidney function and management of any renal complications.
• Educational support: Special education services to address learning difficulties.

Prognosis

The prognosis for individuals with Bardet-Biedl syndrome varies depending on the severity of symptoms and the presence of complications. Early diagnosis and management can improve quality of life and outcomes.

Also see

• Retinitis pigmentosa
• Polydactyly
• Chronic kidney disease
• Genetic testing