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?
It is usually diagnosed in childhood on the basis of clinical evaluation and detection of characteristic conditions like loss of vision, obesity, etc. Diagnosis of retinal problem can be made by an Ophthalmologist through specialised tests like electroretinogram (ERG).
HOW IS BARDET-BIEDL SYNDROME TREATED?
Therapy aimed at speech and other behaviour based symptoms can be used. Also, corrective surgery for any anomalies in the fingers and toes can be carried out. Further, medication to control other symptoms may be prescribed. One must also control obesity and indulge in a proper diet to treat this ailment.
DID YOU KNOW?
Prenatal ultrasound scanning in second trimester of pregnancy can help in diagnosing BBS antenatal.