Bardet-Biedl syndrome is a rare, genetic multisystem disorder that is the deterioration of cells that receive light stimuli in the retina of the eye, an extra finger near the pinky or an extra toe near the fifth toe; a condition in which fat is abnormally distributed on the abdomen and chest rather than the arms and legs, diminished size and function of the gonads in males, kidney abnormalities, and learning difficulties.
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?
Early intervention is vital for ensuring that children affected with Bardet-Biedl Syndrome progress well.