Bardet-Biedl Syndrome (BBS) is a rare genetic disorder characterized by a wide range of symptoms affecting multiple organ systems. It is estimated to affect approximately 1 in 100,000 to 160,000 individuals worldwide, making it a relatively uncommon condition.
BBS is an autosomal recessive disorder, meaning that both parents must carry a mutated gene for their child to be affected. The syndrome is highly heterogeneous, with at least 20 different genes associated with its development. This genetic complexity contributes to the variability in symptoms and severity observed among individuals with BBS.
Common features of BBS include obesity, vision problems, kidney abnormalities, intellectual disability, and extra fingers or toes. However, not all individuals with BBS will exhibit all of these characteristics, and the severity can vary widely even within families.
Due to its rarity and the variability in symptoms, diagnosing BBS can be challenging. Genetic testing is often necessary to confirm the presence of BBS-related gene mutations. Early diagnosis and management of symptoms are crucial to provide appropriate medical care and support for individuals with BBS.