Bardet-biedl syndrome

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Bardet-Biedl Syndrome

Bardet-Biedl Syndrome (BBS) (pronounced: bar-det beed-l sin-drome) is a rare, genetically inherited disorder. It is named after the French physicians, Georges Bardet and Arthur Biedl, who first described the syndrome in the early 20th century.

Etymology

The syndrome is named after Georges Bardet and Arthur Biedl, two physicians who independently described the condition in the 1920s. The term "syndrome" is derived from the Greek word "syndromē," which means "concurrence of symptoms," or "running together."

Definition

Bardet-Biedl Syndrome is characterized by a combination of multiple symptoms, including obesity, retinal degeneration leading to blindness, polydactyly (extra fingers or toes), intellectual disability, hypogonadism (underdeveloped sex organs or delayed puberty), and kidney abnormalities.

Symptoms

The primary symptoms of Bardet-Biedl Syndrome include:

  • Obesity: This is typically central (truncal) obesity, which becomes apparent by the age of 3 years.
  • Retinal degeneration: This leads to night blindness and loss of peripheral vision.
  • Polydactyly: The presence of extra fingers or toes is a common feature.
  • Intellectual disability: This varies widely among affected individuals, but learning difficulties are common.
  • Hypogonadism: Males often have small penis or undescended testicles. Females may have irregular menstrual cycles.
  • Kidney abnormalities: These can range from mild to severe and may lead to kidney failure.

Diagnosis

Diagnosis of Bardet-Biedl Syndrome is based on clinical criteria, and can be confirmed by genetic testing. The clinical criteria include the presence of at least four primary symptoms, or three primary and two secondary symptoms.

Treatment

There is currently no cure for Bardet-Biedl Syndrome. Treatment is symptomatic and supportive, and may include weight management, visual aids, surgery for polydactyly, hormone replacement therapy, and kidney transplantation in severe cases.

Prognosis

The prognosis for individuals with Bardet-Biedl Syndrome varies and depends on the severity of symptoms and the presence of associated complications.

External links

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