Which statement is true of Bardett-Biedl syndrome? Bardet-Biedl Syndrome: A Comprehensive Overview of Diagnosis and Management

Bardet-Biedl Syndrome: A Comprehensive Overview of Diagnosis and Management

Bardet-Biedl syndrome (BBS) is an inherited disorder that affects multiple organ systems, including the eyes, kidneys, heart, and central nervous system. This disorder is characterized by obesity, intellectual disability, and the progressive loss of vision. BBS is a rare condition, and it is estimated to affect about 1 in 160,000 people worldwide (Carmi et al., 2016). The primary cause of BBS is a mutation in at least one of the 20 genes that have been associated with the disorder (Lam et al., 2021). This mutation can cause a variety of symptoms, including obesity, hypogonadism, retinitis pigmentosa, kidney problems, and developmental delays. Other symptoms of BBS can include polydactyly, hearing loss, and mental retardation.
Early diagnosis of BBS is essential for the successful management of the condition, as this can help to prevent complications and improve quality of life. Diagnosis is typically based on clinical signs, as well as genetic testing to identify the responsible mutation (Borck et al., 2019). Cont….