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Bardet-Biedl Syndrome (BBS) is a rare genetic disorder that affects multiple body systems, causing vision problems, obesity, kidney issues, extra fingers or toes, and intellectual disabilities. It is inherited in an autosomal recessive pattern and affects about 1 in 100,000 to 160,000 people worldwide. Diagnosis involves clinical evaluation and genetic testing. Current research focuses on understanding its genetic causes, studying cilia function, and developing treatments to manage its symptoms.
Bardet-Biedl Syndrome (BBS) manifests through a combination of symptoms, which can vary in severity among affected individuals. Common symptoms include vision problems (retinal degeneration leading to blindness), obesity, polydactyly (extra fingers or toes), kidney abnormalities, intellectual disabilities, and reproductive issues.