Bardet-Biedl syndrome (BBS) is a rare genetic disease affecting every organ system in the body. BBS begins to affect the health of a child before birth and continues to affect daily activities throughout life. Although the prevalence of BBS is only about 1 in 100,000 individuals it impacts the lives of thousands of people. BBS is diagnosed based on different features such as:
Vision loss or blindness
Obesity resulting from impaired regulation of hunger
Problems affecting urinary and genital organ function and structure
Chronic kidney disease
Extra fingers and toes
Problems with language, thinking, judgment and memory
Endocrine disorders that may affect growth and development, metabolism, sexual function, reproduction and mood

Sadly because it is so rare, BBS may not be recognized early. This may delay the start of treatment and support for at-risk families.