Which syndrome is characterized by retinitis pigmentosa and polydactyly?

Bardet-Biedl Syndrome is characterized by a combination of symptoms that include retinitis pigmentosa, polydactyly, obesity, intellectual disability, renal abnormalities, and speech delay. Retinitis pigmentosa is a progressive retinal degeneration that leads to vision loss, while polydactyly refers to the presence of extra fingers or toes. The etiology of Bardet-Biedl Syndrome is often related to genetic mutations that affect cilia function, which plays a critical role in cell signaling and development. These features are hallmark traits of the syndrome, making it identifiable and distinct from other genetic disorders.

In contrast, Williams Syndrome is associated with cardiovascular anomalies and distinctive facial features but does not typically involve retinitis pigmentosa or polydactyly. Marfan Syndrome is characterized by features such as tall stature, long extremities, and cardiovascular issues, but it also does not include these specific findings. Down Syndrome is primarily known for its characteristic facial features, intellectual disability, and increased risk of congenital heart defects, but again does not encompass retinitis pigmentosa or polydactyly. Thus, Bardet-Biedl Syndrome is the only choice that aligns with the presentation of both retinitis pigmentosa and polydactyly.