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?
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?
Treatment depends on the signs and symptoms. Coordinated efforts of orthopedic surgeons, pediatric, dentist, cardiologists etc. is required. Abnormalities of the fingers and/or toes may be treated surgically. Special educational and behavioral programmes are available for different impairments associated with this syndrome.
DID YOU KNOW?
Prenatal ultrasound scanning in second trimester of pregnancy can help in diagnosing BBS antenatal.