Bardet–Biedl syndrome

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Bardet–Biedl syndrome
Synonyms	Laurence–Moon–Bardet–Biedl syndrome
Pronounce
Specialty	Medical genetics
Symptoms	Obesity, retinal dystrophy, polydactyly, renal abnormalities, hypogonadism, intellectual disability
Complications	N/A
Onset	Childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	Alström syndrome, Usher syndrome, McKusick–Kaufman syndrome
Prevention	N/A
Treatment	Symptomatic management, genetic counseling
Medication	N/A
Prognosis	Variable, depends on severity of symptoms
Frequency	1 in 140,000 to 1 in 160,000
Deaths	Rare, usually due to complications

Bardet–Biedl syndrome (BBS) is a rare, autosomal recessive genetic disorder that primarily affects the eyes, kidneys, and limbs. It is characterized by a combination of symptoms, including obesity, retinal degeneration, polydactyly, intellectual disability, hypogonadism, and renal abnormalities.

Symptoms and Signs

The symptoms of Bardet–Biedl syndrome can vary greatly from person to person. However, the primary symptoms include:

• Obesity: This is often a central feature of the syndrome, with weight gain typically beginning in early childhood.
• Retinal degeneration: This can lead to night blindness and a loss of peripheral vision, eventually progressing to complete blindness.
• Polydactyly: The presence of extra fingers or toes is a common feature of BBS.
• Intellectual disability: Some individuals with BBS may have mild to moderate intellectual disability.
• Hypogonadism: This refers to underdeveloped or malfunctioning reproductive organs.
• Renal abnormalities: Kidney problems, ranging from mild to severe, are common in individuals with BBS.

Causes

Bardet–Biedl syndrome is caused by mutations in at least 14 different genes. These genes are involved in the function of cilia, which are tiny, hair-like structures that line the surfaces of cells and play a crucial role in cell signaling.

Diagnosis

Diagnosis of Bardet–Biedl syndrome is based on clinical criteria, including the presence of at least four primary features or three primary and two secondary features. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for Bardet–Biedl syndrome. Treatment is symptomatic and supportive, and may include weight management, vision aids, kidney transplantation, and hormone replacement therapy.

See Also

• Genetic disorders
• Obesity
• Retinal degeneration
• Polydactyly
• Intellectual disability
• Hypogonadism
• Renal abnormalities

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