Bardet-Biedl Syndrome synonyms

Bardet-Biedl Syndrome, also known as BBS, is a rare genetic disorder that affects multiple systems in the body. It is characterized by a combination of various symptoms, including obesity, vision problems, kidney abnormalities, intellectual disability, and extra fingers or toes.

Obesity is a common feature of Bardet-Biedl Syndrome, often starting in early childhood. Individuals with BBS may have difficulty controlling their weight due to a slow metabolism and a tendency to overeat. This can lead to various health complications, such as diabetes and heart disease.

Vision problems are another hallmark of Bardet-Biedl Syndrome. Most individuals with BBS experience retinal dystrophy, which causes progressive vision loss. Night blindness and tunnel vision are common symptoms, and some may eventually become legally blind.

Kidney abnormalities are present in many individuals with BBS. These abnormalities can include structural defects, cysts, or impaired kidney function. Kidney problems may lead to chronic kidney disease and the need for dialysis or kidney transplantation.

Intellectual disability is seen in a significant number of individuals with Bardet-Biedl Syndrome. It can range from mild to severe and may affect cognitive abilities, learning, and adaptive skills. Early intervention and educational support can help individuals with BBS reach their full potential.

Extra fingers or toes, known as polydactyly, is a physical characteristic often associated with Bardet-Biedl Syndrome. The additional digits can vary in size and functionality, and surgical intervention may be required to correct any functional or cosmetic issues.

Bardet-Biedl Syndrome is a complex disorder with a wide range of symptoms and severity. It is caused by mutations in various genes, and its inheritance pattern can be autosomal recessive or autosomal dominant. Early diagnosis and management of the condition are crucial to address the specific needs of individuals with BBS and improve their quality of life.