What is the genetic inheritance pattern of Bardet-Biedl syndrome?

Bardet-Biedl syndrome is primarily inherited in an autosomal recessive manner. This genetic pattern means that an individual needs to inherit two copies of the faulty gene—one from each parent—to express the condition. If a person has only one copy of the mutated gene, they typically do not exhibit symptoms but are considered a carrier.

This disorder is linked to mutations in several different genes, many of which are involved in cilia function, thus impacting various body systems such as vision, obesity, kidney function, and polydactyly. Understanding this inheritance pattern is crucial, particularly when it comes to genetic counseling for affected families, as carriers may not be aware of their risk of having affected children. The focus on autosomal recessive inheritance is essential for identifying and managing the syndrome appropriately in clinical practice.