Bardet-Biedl syndrome
Bardet-Biedl syndrome
Bardet-Biedl syndrome (pronunciation: bar-DAY bee-DEL sin-drome) is a complex genetic disorder that affects many parts of the body. The syndrome is named after the two French physicians, Georges Bardet and Arthur Biedl, who first described it in the early 20th century.
Etymology
The term "Bardet-Biedl" is derived from the names of the two French physicians, Georges Bardet and Arthur Biedl, who independently described the syndrome in 1920 and 1922 respectively.
Definition
Bardet-Biedl syndrome is characterized by a combination of features, including obesity, retinal dystrophy, polydactyly, intellectual disability, hypogonadism, and renal dysfunction. The severity of these features varies widely among affected individuals, even among members of the same family.
Symptoms
The primary symptoms of Bardet-Biedl syndrome include:
- Obesity: This typically begins in early childhood and continues into adulthood, leading to various health problems such as type 2 diabetes, high blood pressure, and heart disease.
- Retinal dystrophy: This condition causes vision loss that worsens over time, eventually leading to blindness.
- Polydactyly: This is the presence of extra fingers or toes.
- Intellectual disability: Some people with Bardet-Biedl syndrome have mild to moderate intellectual disability.
- Hypogonadism: This is a condition in which the body produces little or no sex hormones.
- Renal dysfunction: This can lead to kidney failure in some people with Bardet-Biedl syndrome.
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, visual aids, hormone replacement therapy, and kidney transplantation in cases of renal failure.
See also
- Genetic disorder
- Obesity
- Retinal dystrophy
- Polydactyly
- Intellectual disability
- Hypogonadism
- Renal dysfunction
External links
- Medical encyclopedia article on Bardet-Biedl syndrome
- Wikipedia's article - Bardet-Biedl syndrome
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