Bardet-Biedl Syndrome

Bardet-Biedl syndrome is a genetic condition that can have major effects all over the body. The complex and extremely rare recessively inherited disease is characterized by the destruction of the cells that are the recipients of light stimuli (rod and cone cells) within the retinas of the eyes. As a result, loss of vision is one of the primary characteristics of Bardet-Biedl syndrome. Some of the vision problems that are typically associated with Bardet-Biedl syndrome include reduced visual acuity, tunnel vision, photophobia and night blindness.

Obesity is also a common feature of Bardet-Biedl syndrome. In early childhood, people with the syndrome often experience unusually weight gain. Obesity is often a problem with sufferers for their entire lifespans. Complications also often arise due to the excess weight, such as high blood pressure, type II diabetes and extremely high levels of cholesterol (known as hypercholesterolemia).

Another notable sign of Bardet-Biedl syndrome is the presence of extra toes and fingers, which is called polydactyly. When a baby is born with extra toes and fingers, it is often the first indication of Bardet-Biedl syndrome. Along with the extra toes and fingers, webbing of the toes is also a possibility. The fingers and toes also tend to have a stubbier and shorter appearance than normal, as well.

Developmental disabilities are also a possibility for individuals with Bardet-Biedl syndrome. The disabilities can range from learning problems and delayed development of emotions to mental retardation.

No known cure is yet available for Bardet-Biedl syndrome. Instead, doctors usually focus on treating specific systems and organs that are affected throughout the body.