Clinical Presentation and Co-Morbidities in Bardet-Biedel Syndrome: Case Series from a Single Centre.

Introduction: Bardet-Biedl syndrome (BBS-OMIM 209900) is a rare genetic multi-system obesity syndrome with limited case reports from India. We describe a case series of BBS with varied clinical presentation and their co-morbidities. Methods: BBS was diagnosed based on the clinical criteria by Beales Results: Eleven cases of BBS were analyzed over 9 years, of which the most common primary clinical manifestations were post-axial polydactyly and learning disabilities, noted in all individuals (100%). Retinitis pigmentosa and truncal obesity were present in 91% (10 out of 11). Clinical and biochemical features of hypogonadism and genital abnormalities were observed in 73% of individuals. Craniofacial dysmorphism and developmental delay were the more commonly observed secondary features, observed in 91%. Speech delay and brachydactyly/syndactyly were present in 73% of cases. Hyperactive behavioural disturbances and diabetes mellitus were noted in 45% and 18% of cases, respectively. Cataracts, hypertonia, dental malocclusion and cardiac anomalies (dextrocardia) were each observed in just one patient among the study population of 11 patients. The molecular genetics were analysed in two individuals. Conclusion: BBS is an extremely rare clinical syndrome with clinical heterogeneity at presentation. The appropriate diagnosis of syndromic obesity and an early multi-disciplinary intervention may improve their quality of life.