Bardet Biedl Syndrome is a human genetic disorder that creates symptoms like obesity and weight gain, speech disorder, renal failure, uncoordinated movements, hearing impairment and others. It affects the various organs and senses like the eyes, hands, feet, cardiovascular cavity, behaviour and growth, and other quarters as well.
HOW IS BARDET-BIEDL SYNDROME DIAGNOSED?
Diagnosis is usually made on the basis of the clinical features but should be confirmed by molecular genetic testing Genotyping may be required to differentiate BBS from other rare genetic disorders.
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?
Bardet-Biedl syndrome has significant overlap with Laurence-Moon syndrome.