BARDET BEIDL SYNDROME - A RARE PLEIOTROPIC DISORDER

Background: Bardet-Biedl Syndrome is a disorder with a pleiotropic gene action on multiple phenotypic traits and thus a wide range of clinical variability is seen within and between families. Bardet Beidl Syndrome is characterized by rod cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypo-gonadotrophic hypogonadism, complex female genitourinary malformations and renal abnormalities. Case Presentation: A one day old male child came to the Outpatient department of a private clinic. The case presented with polydactyly, absence of hard palate due to failure of fusion of bilateral premaxillary segments and macular grade corneal opacity as examined by an ophthalmologist. Conclusion: The diagnosis of Bardet Beidl syndrome (BBS) is established by clinical findings. According to studies by Beales et al in 1999 and 2001, diagnosis is confirmed with the presence of three primary features and two secondary features. An interpretation of the molecular pathogenesis with a thorough research into therapeutics may bring about new treatment options for the organ specific disorders of Bardet Beidl Syndrome.