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?
Bardet-Biedl Syndrome is usually diagnosed in the childhood based on physical examination and specific findings. Retinal diagnosis may be done by an ophthalmologist. For selected cases Genetic testing may be done in special laboratories.
HOW IS BARDET-BIEDL SYNDROME TREATED?
Treatment for the Bardet-Biedl Syndrome is addressed towards specific symptoms found in individuals. Treatments may require a combined effort from various specialists like paediatricians, cardiologists, nephrologists, speech specialists and ophthalmologists. Retinal dystrophy can be addressed by standard therapy by an ophthalmologist. Obesity can be managed by dietary changes and exercises.
DID YOU KNOW?
Early intervention is vital for ensuring that children affected with Bardet-Biedl Syndrome progress well.