Bardet‑Biedl Syndrome
Bardet‑Biedl Syndrome (BBS) is a rare, genetic, multi-system condition affecting around 1 in 100,000 births. It can significantly impact quality of life and may be life-limiting.
Key Features
- Visual impairment: progressive rod‑cone dystrophy leading to night blindness and tunnel vision
- Obesity with metabolic consequences
- Kidney dysfunction
- Developmental delay, learning and speech difficulties
- Polydactyly: extra fingers or toes
- Other issues: hearing, liver, heart, joints, digestive, and respiratory problems
The variability in presentation and severity of the syndrome, together with the rarity of the condition, can lead to delayed diagnosis and a lack of adequate local health care.
There is at present no cure for Bardet-Biedl Syndrome, and multi-disciplinary (MD) care is needed.
Bardet‑Biedl Syndrome UK (BBS UK)
BBS UK is the sole UK charity supporting people with BBS, established in 1993 (formerly LMBBS). It is a user-led charity managed by people with BBS and parents of those affected.
Supporting over 700 individuals, their families, carers, and professionals, helping with diagnosis, care, transition, and daily life.
Our Aims
- Safeguard health and well‑being
- Promote independence and welfare
- Educate professionals & public on BBS
- Reduce isolation and build community networks
Get in Touch
📞 Phone: 07784 922654
📧 Email: admin@bbsuk.org.uk
🌐 Website: www.bbsuk.org.uk
📱 Facebook: Bardet‑Biedl Syndrome UK
Research & Collaboration
Research is an integral part of the history and future of Bardet-Biedl Syndrome UK and enables them to improve the lives of those with the syndrome through better management and treatments, and in understanding the underlying causes of the syndrome.
As a charity, they have been primarily patient support-focused and are only just starting to consider their role with regard to research and collaboration with the scientific and medical professionals across the globe. They aim to engage with rare disease research, to share experience and knowledge of our genetic condition with others and network with similar organisations. Most importantly, they wish to share and publish updates regarding research with members and patients.
BBS UK has developed its research policies to support us in future collaborations and have a comprehensive Research Policy and Guidelines, Scientific Advisory Board Policy and Research Statement and Pharma Policy.
Resources
🎥 YouTube: BBS Video Library– personal stories and expert conference presentations – https://www.youtube.com/@bardet-biedlsyndromeuk2209/featured
📚 Downloads from BBS UK:https://bbsuk.org.uk/bbs-uk-publications/
- Intro to BBS booklet (including Easy‑Read, Urdu, Turkish)
- Booklet for Schools and Colleges (PDF)
- Transition handbook: My Life, My Future
- Annual medical information booklet (updated 2025) with comprehensive clinical content: Medical Information Booklet
