Bardet - Biedl syndrome

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  • characterised by retinal dystrophy, hypogonadism, reduced IQ, obesity (+/- polydactyly) plus renal abnormalities (calcyceal cysts or diverticula, calyceal blunting or clubbing, fetal lobulation)
  • this syndrome does not have neurological symptoms (spastic paraplegia) - this differentiates it from Laurence-Moon-Biedl syndrome
  • recessive inheritance
    • genetic locus:
      • BBS1 has no linkage to chromosome 16
      • BBS2 is mapped to markers on chromosome 16.
  • epidemiology
    • incidence 1: 160,000; in Newfoundland the incidence is much higher at 1: 16,000

Main contributor for Bardet - Biedl syndrome section: Thomas Waterfield (October 2007).

Last reviewed 01/2018