A Case Report of Bardet -Biedl Syndrome :Multisystem Ciliopathy

Background: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by a spectrum of clinical features including retinal dystrophy, polydactyly, obesity, cognitive impairment, hypogonadism, and renal anomalies. Diagnosis is often delayed due to variable presentation. We report an 8-year-old female presenting with progressive visual impairment, obesity, developmental delay, and a history of polydactyly. Ophthalmological examination revealed retinitis pigmentosa. Ultrasound imaging demonstrated bilateral renal parenchymal changes. Genetic testing confirmed BBS. The child was managed with multidisciplinary supportive care and is under regular follow-up. Early recognition of the characteristic features of BBS can he Conclusion: lp initiate timely intervention, reduce complications, and improve quality of life in affected individuals.