Bardet Beidle Syndrome in a Syrian Adolescent : A Rare Case Report

Bardet-Biedl Syndrome (BBS) is a rare genetic disorder [1] that affects multiple organ systems [1] and presents with a variety of characteristics [2] . It is caused by a dysfunction in the cilia [1] . The disorder is autosomal recessive ]1] and has a prevalence rate of 1 per 160000 live births in Europe[3]. The primary manifestations include central obesity, post-axial polydactyly, retinal dystrophy, hypogonadism, learning difficulties, and renal malformations[1] . Secondary manifestations include diabetes, brachydactyly, syndactyly, strabismus, cardiac problems, speech difficulties, and ataxia [2] .The diagnosis of BBS requires the presence of four primary features or three primary features and two secondary features [1] , a new paper suggests that modified criteria for diagnosis can be at a moderate level of confidence if it includes at least 2 primary criteria [4] . In this paper, we describe an adolescent male with a unique presentation of BBS. To the best of our knowledge, this is the first case in Syria described in the literature