BBS UK Publications

It is estimated that Bardet-Biedl syndrome (BBS) affects approximately 1 in 100,000 people in the UK. Many GPs, doctors and health professionals will not have come across BBS before and there are many who have not heard of the syndrome.

This booklet has been produced by BBS UK to promote a greater understanding of the syndrome and the recommended care pathway. It is aimed at the medical and healthcare professionals involved in the care of BBS patients and also those living with the syndrome, their parents and carers, with the aim of encouraging better self-advocacy and health care management.

The information contained within this booklet has been provided and checked by the BBS Specialist Clinics team and where possible is supported by research and published articles. The last review was conducted in 2025.

The Introducing Bardet-Biedl Syndrome booklet provides a summary of BBS and its key symptoms and treatments.

It also addresses some of the most commonly asked questions from those diagnosed with BBS, their parents/ carers and extended support network.

This booklet is designed to aid understanding of BBS within schools and colleges. Based on the views of children and young people who have BBS and their parents and carers, this publication was written in collaboration with medical and education professionals, experienced and interested in BBS.

We aim to improve awareness and understanding of BBS amongst educators to enable them to more effectively support their students to reach their full potential.

My Life, My Future is a young person’s guide to living their life with Bardet-Biedl syndrome. The booklet has been put together by BBS UK to help young people who have BBS, achieve the best life possible.

You may have heard the word ‘Transition’ being used by health professionals. It is often used to describe growing up and managing changes at key points in our lives. This includes all sorts of things like changing schools, starting work, making new friends, or managing emotions. It also includes planning and preparing for your eventual transfer to adult healthcare services.

As you get older you will want to have more choice, make your own decisions, and develop the confidence to speak up for yourself.

My Life, My Future is a useful toolkit of information to help you on your way to being more independent and get you thinking about how you would like to live your life.

BBS UK have developed an information sheet for parents and carers of children and young people who have BBS to aid understanding of Special Educational Needs (SEN) provision in schools.

The information is designed to help parents and carers effectively advocate for their child/young person and ensure they are given the best support possible.