Bardet is a rare genetic disorder that affects multiple organs and systems in the body. It is characterized by a combination of features, including:
- Retinitis pigmentosa: A progressive eye disease that causes night blindness and loss of peripheral vision.
- Obesity: Excessive body weight due to a combination of factors, including hormonal imbalances and impaired metabolism.
- Polydactyly: The presence of extra fingers or toes.
- Renal abnormalities: Kidney problems, such as cysts or kidney failure.
- Cerebellar ataxia: A neurological disorder that affects balance and coordination.
Bardet-Biedl syndrome is caused by mutations in genes involved in the formation of cilia, which are tiny hair-like structures found on the surface of cells. These cilia play a crucial role in various cellular functions, including sensing the environment, cell signaling, and movement.
The severity of Bardet-Biedl syndrome can vary widely among individuals. Some people may experience mild symptoms, while others may have more severe complications. There is currently no cure for Bardet-Biedl syndrome, but treatment focuses on managing the symptoms and improving quality of life.
