Multidisciplinary clinical service for children with Bardet-Biedl Syndrome BBS

Since April 2010 Great Ormond Street Hospital and Birmingham Children’s Hospital have been funded by NHS England to provide this national paediatric BBS service. The aim of the service is to achieve earlier diagnosis, intervention and optimal health outcomes by providing access to key specialists. These clinics are delivered in partnership with the charity BBS UK to allow ongoing support for our families.

What is BBS?

BBS is a rare, inherited disorder with an estimated prevalence rate of 1 in 100,000 in the UK. BBS is characterized by rod cone dystrophy, obesity, polydactyly, cognitive impairment and renal abnormalities. To date 21-disease causing genes have been identified allowing molecular diagnosis confirmation in around 80%. Clinical diagnostic criteria (Beales et al. J Med Gen 1999) allow a clinical diagnosis to be made if the presence of four primary features or three primary and two secondary features are identified. BBS is a spectrum with huge variation in clinical symptoms so attendance at these specialist clinics is highly recommended.

Which specialists are seen?

During the clinic morning each child/family has their own dedicated room in which they are seen by the clinic team. Every child sees a geneticist, endocrinologist, nephrologist, clinical nurse specialist, dietitian, speech therapist, clinical psychologist and a support officer from BBS UK. Lunch is provided and this hopefully allows families time to chat with each other or ask any additional questions to the clinic team. Each child spends the afternoon in the ophthalmology department having detailed investigations/examinations and review.

Additional multidisciplinary telephone clinics were introduced in 2019 to provide care between appointments. During telephone clinics families speak to Professor Phil Beales (Geneticist), Kath Sparks (BBS Clinical Nurse Specialist), Sarah Flack (BBS Dietitian) and Angela Scudder (BBS UK Support Officer).

Referrals to the service

Children can be referred by a clinician if they meet any one of the following criteria:

  • a molecularly confirmed diagnosis of BBS
  • a confirmed clinical diagnosis from a geneticist

Referrals should be addressed to:

Professor Phil Beales
Consultant Clinical Geneticist, BBS Service

Recent publications:

  • Mujahid S, Hunt KF, Cheah YS, Forsythe E, Hazlehurst JM, Sparks K, Mohammed S, Tomlinson JW, Amiel SA, Carroll PV, Beales PL, Huda MSB, McGowan BM The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population. J Clin Endocrinol Metab. 2018 May 1:193(5):1834-1841
  • Forsythe E, Kenny J, Bacchelli C, Beales PL Managing Bardet-Biedl Syndrome – Now and in the Future. Front Pediatr. 2018 Feb 13;6:23. doi: 10.3389/fped.2018.00023. eCollection 2018
  • Kenny J, Forsythe E, Beales PL, Bacchelli C Toward personalized medicine in Bardet-Biedl Syndrome. Per Med. 2017 Sep; 14:447-456
  • Forsythe E, Sparks K, Best S, Borrows S, Hoskins B, Sabir A, Barrett T, Wiliiams D, Mohammed S, Goldsmith D, Milford DV, Bockenahauer D, Foggensteiner L, Beales PL Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. J Am Soc Nephrol. 2017 Mar;28(3):963-970. doi: 10.1681/ASN.2015091029. Epub 2016 Sep 22
  • Forsythe E, Beales P Bardet-Biedl Syndrome. Eur J Hum Genet. 2013 Jan;21(1):8-13. doi: 10.1038/ejhg.2012.115. Epub 2012 Jun 20.
  • Poster Presentation: S. Flack, C. Peters, K. Sparks, P. Beales Does Attendance at a Paediatric Multidisciplinary Specialist Bardet-Biedl Syndrome Annual Review Clinic Lead to a Reduction in Body Mass Index? 2017 International Conference on Nutrition and Growth 

Clinical Outcomes