What is Bardet-Biedl Syndrome?
An Introduction to a Rare Genetic Disorder
Bardet-Biedl Syndrome (BBS) is a rare genetic condition that affects multiple systems in the body, leading to a wide range of symptoms that can vary greatly from person to person. Though it is considered a “rare disease,” awareness and understanding of BBS are critical—not only for those living with the condition, but also for families, caregivers, and medical professionals.
A Complex, Multisystem Disorder
BBS primarily impacts the following areas of the body:
- Vision – Progressive vision loss due to retinal degeneration is one of the most common and early symptoms.
- Kidneys – Many individuals experience kidney abnormalities that may lead to serious complications.
- Weight – Obesity, often beginning in childhood, is a hallmark symptom.
- Development – Delays in learning and speech, along with intellectual disabilities, are common.
- Limbs – Extra fingers or toes (polydactyly) are frequently present at birth.
- Hormonal and Reproductive Health – Some individuals experience infertility or delayed puberty.
While no two cases of BBS are exactly alike, the condition often involves a combination of these symptoms, which can make diagnosis challenging.
Why is it Called Bardet-Biedl Syndrome?
The syndrome is named after Georges Bardet and Arthur Biedl, two physicians who first described the condition in the early 20th century. Over the years, advances in genetics and medicine have helped researchers better understand the complexity of BBS.
How Common is Bardet-Biedl Syndrome?
BBS is estimated to affect approximately 1 in 140,000 to 1 in 160,000 people in North America and Europe. However, in certain populations with higher rates of genetic overlap or intermarriage, such as some Middle Eastern communities, the incidence may be significantly higher.
Because it is a rare condition, BBS is often underdiagnosed or misdiagnosed, which can delay essential treatment and support. Increasing awareness is key to improving outcomes.
Why Awareness Matters
At A Race Against Blindness, our mission is to bring attention to conditions like Bardet-Biedl Syndrome that cause progressive vision loss and affect quality of life in many ways. Early diagnosis, supportive care, and ongoing research are all vital—and with your support, we can make a difference in the lives of individuals and families affected by BBS.
Up Next: Common Symptoms of Bardet-Biedl Syndrome
In the next post of our series, we’ll take a closer look at the different ways BBS affects the body and what symptoms to watch for—especially in early childhood when early intervention can make the biggest impact.