About Bardet-Biedl Syndrome
Bardet-Biedl Syndrome (BBS) is a rare genetic disorder characterized by multiple features including retinal degeneration, obesity, polydactyly (extra fingers or toes), cognitive impairment, and kidney abnormalities. It is classified as a ciliopathy, meaning it affects the function of cellular structures called cilia.
Tobin, J. L., & Beales, P. L. (2009). The nonmotile ciliopathies. Genetics in Medicine, 11(6), 386–402. DOI:10.1097/GIM.0b013e3181a02882
The main features of BBS include:
- Progressive vision loss due to retinal degeneration
- Obesity, typically developing in early childhood
- Polydactyly (extra fingers or toes)
- Learning difficulties or intellectual disability
- Kidney abnormalities
- Hypogonadism (underdeveloped reproductive organs)
Forsythe, E., & Beales, P. L. (2013). Bardet-Biedl syndrome. European Journal of Human Genetics, 21(1), 8–13. DOI:10.1038/ejhg.2012.115
Currently, BBS is not completely curable. However, many of its symptoms can be managed to some extent with appropriate medical care and interventions. Research is ongoing to develop new treatments, including gene therapies.
Forsythe, E., Sparks, K., & Beales, P. L. (2018). Management of Bardet-Biedl Syndrome—what could be considered in the future? Molecular Syndromology, 9(2), 58–74. DOI:10.1159/000488979
Mockel, A., Perdomo, Y., & Stutzmann, F. (2011). Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies. Progress in Retinal and Eye Research, 30(4), 258–274. DOI:10.1016/j.preteyeres.2011.05.002
About Interventions
Interventions for BBS are typically aimed at managing specific symptoms and may include:
- Regular eye exams and vision support
- Weight management and nutritional counseling
- Educational support and cognitive therapies
- Kidney function monitoring and treatment
- Hormonal therapies
- Surgical interventions (e.g., for polydactyly)
Yes, researchers are exploring several new approaches, including:
- Gene therapy for specific BBS genes
- Small molecule therapies to improve ciliary function
- Targeted therapies for obesity management in BBS
The best approach is to work closely with a multidisciplinary team of healthcare professionals experienced in treating BBS. They can provide personalized recommendations based on the specific symptoms and needs of the individual.
We strive to keep our information as current as possible. The content is reviewed and updated regularly, at least once a year, to reflect the latest research and treatment options.
You can contact us through our dedicated email address listed on this website. We also recommend joining BBS support groups or patient organizations for more personalized support and information sharing.
Some great support groups can be found on Facebook:
Bardet Biedl Family Support Group https://www.facebook.com/groups/2788088004622612
Bardet Biedl Syndrome Canada https://www.facebook.com/groups/1479247428997328
General Information
No, this website is for informational purposes only and should not be considered a substitute for professional medical advice, diagnosis, or treatment. Always consult with qualified healthcare providers for medical advice tailored to your specific situation.
For the most up-to-date and personalized information, always consult with your healthcare provider.