Caspian Journal of Internal Medicine 2022; 13(4): 805-809 DOI: 10.22088/cjim.13.4.805 Case Report © The Author(s) Publisher: Babol University of Medical Sciences Michael Edwar (MD) 1* Usama Ragab (MD) 1 Ahmed Atia Kamel (MD) 1 1. Department of Internal Medicine, Faculty of Medicine, Zagazig University, Zagazig, Egypt * Correspondence: Michael Edwar, Department of Internal Medicine, Faculty of Medicine, Zagazig University, Zagazig, Egypt E-mail: michaelfarag@medicine.zu.edu.eg Tel: 0020 1285379758 Received: 5 Oct 2020 Revised: 17 Jan 2021 Accepted: 18 Jan 2021 Bardet-Biedl syndrome: The longer we miss, the worse is the outcome Abstract Background: Bardet-Biedl syndrome (BBS) is characterized by obesity, cognitive abnormalities, rod-cone dystrophy, skeletal abnormalities, and many other secondary features. Case Presentation: We describe a 28-year-old man presented with postaxial polydactyly, retinitis pigmentosa, obesity, hypogonadism and learning difficulties. Renal insufficiency in form of acute kidney injury was the presenting feature and this explain the worse outcome. The diagnosis was delayed despite being classic. This delay in diagnosis leads to a lot of complications that worsen the patient's condition. Conclusion: The characteristics of BBS should be noted by doctors because an early diagnosis will result in a better outcome. The case was prone to numerous consequences due to the delay in diagnosis, which could have been avoided if an early diagnosis had been established. Keywords: Bardet-Biedl syndrome, Ciliopathies, Consanguinity, Polydactyly Citation: Edwar M, Ragab U, Atia Kanel A. Bardet-Biedl syndrome: The longer we miss, the worse is the outcome. Caspian J Intern Med 2022; 13(4): 805-809. B ardet-Biedl syndrome (BBS) is an autosomal recessive syndrome first described by two separate physicians, George Bardet formerly described a case with a cognitive abnormality, obesity, retinal dystrophy, renal dysfunction, hypogonadism, and postaxial polydactyly in 1920 (1). Aruther Biedl, an Austrian physician found the same criteria in different individuals two years later. The syndrome was coined later as Bardet – Biedl syndrome (2). BBS is sometimes confused with another syndrome called Laurance – Moon syndrome, which was mentioned in 1866. Nowadays, it is widely accepted to be two different syndromes with some phenotypic resemblance. Both share obesity, retinal dystrophy, hypogonadism, renal affection, however, Laurance – Moon syndrome is distinguished with spastic paraplegia and BBS is characterized by postaxial polydactyly (2, 3). The prevalence of BBS is estimated in different populations and showed marked variation, wherein the European community ranged from 1: 125000 to 1: 160000. In the Middle East, also the prevalence varied wherein Bedouin Kuwait was estimated to be 1: 13000, however, in Tunisia, the prevalence was 1:156000 (4). This variation could be attributed to the discrepancy in consanguine marriage (5). BBS is a ciliopathy with a heterogeneous genetic base, up till now 16 genes have been identified. Mutation in BBS gene 1-14 is responsible for about 75 % of the affected individuals (6). In Egypt, no definitive data is available regarding BBS prevalence. This attributed to the lack of definitive screening tools and subsequently underestimation of this syndrome. So, the number of cases reported in Egypt may underestimate the real problem.