Abstract
INTRODUCTION: Bardet-Biedl Syndrome (BBS) is a rare genetic disorder that affects multiple organs and presents with a variety of characteristics. It was found that a dysfunction in the cilia causes it, in addition to mutations in the genes involved in the composition of these cilia. We present a unique case of BBS in a 13-year-old male from Syria, characterized by a significant family history of scleroderma and a distinct clinical presentation. CASE PRESENTATION: The patient presented with intellectual disabilities, post-axial polydactyly, and a history of delayed developmental milestones. The patient's BMI was within the normal range. Laboratory investigations revealed increased TSH and positive calcium oxalate, without evidence of central obesity or blindness. The diagnosis of BBS was made with a moderate level of confidence. The patient was undergoing treatment with thyroxine, showing improvement in thyroid function and communication skills. CLINICAL DISCUSSION: This case highlights the manifestations of BBS and the importance of recognizing atypical presentations. Diagnostic criteria traditionally emphasize a combination of primary and secondary features. We discuss the challenges of diagnosing BBS without genetic testing and the implications for treatment in resource-limited settings. Additionally, we explore therapeutics in managing the patient's condition. CONCLUSION: This case represents a unique presentation of BBS, expanding the understanding of its clinical variability in different populations. The findings underscore the necessity for individualized diagnostic approaches and comprehensive management strategies in patients with limited access to genetic testing. By documenting this case, we contribute to the growing body of literature on BBS, particularly in the Syrian context, highlighting the need for increased awareness and research into this challenging disorder.