It is a ciliopathy human genetic disorder that produces many effects and affects many body systems. It is characterized principally by obesity, retinitis, pigmentosa, polydactyly, hypogonadism, and renal failure in some cases.
HOW IS BARDET-BIEDL SYNDROME DIAGNOSED?
This syndrome is diagnosed at early childhood by a thorough physical examination and details of other medical related problems like visual problems. The retinal diseases are diagnosed by the ophthalmologist after some tests which include ERG. A genetic testing may be helpful in many cases which is available in research laboratories with a special interest in the disease complex.
HOW IS BARDET-BIEDL SYNDROME TREATED?
Genetic counseling and pre conception genotyping of family members may be used as a means of treatment. In case of worsening vision, individuals will benefit from the use of low vision aids and orientation from mobility training. Complications of obesity should be addressed. Diet, exercise and behavioural therapies play a major role in treating BBS
DID YOU KNOW?
Extra fingers and toes is also a symptom of this disorder.