Bardet - Biedl syndrome
Last reviewed 11/2022
- 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.
- genetic locus:
- 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).