Bardet-Biedl syndrome (BBS2-related) is an inherited disorder that affects many different parts of the body.
Symptoms can present at birth and include visual impairment, renal and genital abnormalities, extra fingers or toes, obesity, and learning difficulties.
This condition is caused by pathogenic (disease-causing) variants in the BBS2 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. For example, individuals of Ashkenazi Jewish descent have a 1 in 140 chance to be a carrier. Carriers typically do not experience any symptoms.
Another name for this condition is BBS2-related conditions.
Resources:
National Organization for Rare Disorders (NORD)
Revised August 2022
