Bardet-Biedl Syndrome diagnostic criteria

Bardet-Biedl Syndrome is diagnosed based on recognizing a combination of certain features. Usually, at least four of the following are present: vision problems due to retinal degeneration, extra fingers or toes (polydactyly), obesity, learning difficulties, kidney issues, and abnormalities in the reproductive organs. Some criteria also consider specific genetic mutations. The overall diagnosis involves evaluating these symptoms collectively, often confirmed with genetic testing. Because symptoms can vary, a healthcare professional carefully assesses the clinical signs and may do genetic analysis to confirm the presence of the syndrome.