Bardet-biedl syndrome


Bardet-Biedl (pronounced BAR-day BEED-el) syndrome, also known as BBS, is another type of rare MC4R pathway disease and has a wide range of signs, including hard-to-control hunger and childhood obesity. Different people living with BBS will have different signs of the disease, some may have a lot and some may have only a few.1

What causes BBS?

BBS is caused by a variant, or change, in a BBS gene. This change in the gene can be inherited from parents, in the same way that genes for eye and hair colour are passed down. If both parents have variants in a BBS gene, there is a chance their child will have BBS.1

What are the signs of BBS?

The signs and severity of BBS can vary from person to person. This can make it hard for doctors to diagnose. Some of the key signs are included in this picture:1


What can you do?

If you think you have spotted one or more of these signs in yourself, or your child, download and complete our discussion guide to help prepare for an appointment with your doctor or nurse.


  • 1

    Forsythe E, et al. Orphanet J Rare Dis. 2023; 18(1): 12