Bardet-Biedl Syndrome is a rare, genetic multi-system disorder that affects many systems of the human body. The symptoms vary from individual to individual; they may not be the same even for people belonging to the same family. Common symptoms are rod-cone dystrophy, childhood-onset visual loss and night blindness, truncal obesity and postaxial polydactyly, hypogonadism and genital anomalies and renal abnormalities. Minor symptoms are speech delay, ataxia, poor coordination, deafness and anosmia/hyposmia.
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?
Bardet-Biedl syndrome has significant overlap with Laurence-Moon syndrome.