Bardet-Biedl Syndrome (BBS) is a rare genetic disorder that affects multiple systems in the body. It is characterized by a combination of symptoms including obesity, vision problems, kidney abnormalities, intellectual disability, and extra fingers or toes.
BBS is primarily caused by mutations in certain genes that play a role in the development and function of cilia, which are tiny hair-like structures found on the surface of cells. These cilia are involved in various cellular processes and their dysfunction leads to the wide range of symptoms seen in BBS.
Obesity is a common feature of BBS and typically begins in childhood. Vision problems, such as retinal degeneration and nearsightedness, often lead to progressive loss of vision. Kidney abnormalities can include structural defects or dysfunction, which may result in kidney failure.
Intellectual disability can vary in severity, ranging from mild to moderate. Additionally, individuals with BBS may have extra fingers or toes, known as polydactyly.
Although there is currently no cure for BBS, treatment focuses on managing the individual symptoms and providing support to improve quality of life. This may involve dietary interventions for obesity, vision aids, kidney monitoring, and educational support for intellectual disability.