Abstract
BACKGROUND/OBJECTIVE: This report presents a case of Bardet-Biedl Syndrome (BBS) in a 12-year-old boy from a nonconsanguineous Pakhtoon family in Peshawar, Pakistan, exploring its clinical complexity in a region with previously undocumented prevalence. First identified in the 19th century, BBS is a rare autosomal recessive disorder known for its variable symptomatology and genetic heterogeneity, primarily affecting children with a familial history of consanguinity. CASE REPORT: The subject exhibited hallmark features including polydactyly, syndactyly, developmental delays, central obesity, retinitis pigmentosa, and newly diagnosed diabetes mellitus, diverging from typical consanguineous patterns observed in most BBS cases and reflecting the diverse clinical manifestations of the syndrome. Despite challenges in diagnosis and management, accentuated by limited regional healthcare resources, a comprehensive management plan was formulated, leading to controlled blood sugar levels. DISCUSSION: This case emphasizes the need for increased awareness, improved diagnostic capabilities, and comprehensive management strategies in Pakistan to address the complexities of BBS effectively, particularly in settings with high consanguinity rates and specific cultural marital practices. CONCLUSION: This case underscores the importance of heightened clinical awareness and early recognition among healthcare providers, particularly in regions where cultural practices, such as consanguineous marriages, may predispose to genetic syndromes like BBS.