Bardet Biedel Syndrome
Bardet-Biedl Syndrome (BBS) is an autosomal recessive (from both parents) genetic disorder which affects many parts of the body. Signs and symptoms can vary among affected individuals, even within the same family. The major features include:
- Progressive vision loss due to deterioration of the retina. This usually begins in mid-childhood with problems with night vision, followed by the development of blind spots in peripheral vision. Blind spots become bigger with time and eventually merge to produce tunnel vision. Most individuals also develop blurred central vision and become legally blind by adolescence or early adulthood (over 90% of cases).
- Extra finger next to the pinky (postaxial polydactyly)
- Kidney problems (polycystic Kidneys) Obesity that develops around 2-3 years of age
- Abnormalities of the genitalia and infertility due to hypogonadism
- Learning disorders
BBS may also be associated with other features, including:
- Diabetes
- High blood pressure
- Heart defects
- Bowel disease (Hirschsprung Disease)
- Neurological problems resulting in gait and coordination impairment
- Speech and language problems
- Behavioral disorders
- Distinctive facial appearance
- Dental abnormalities