Bardet-Biedl Syndrome (BBS1-Related) (BBS1)
Bardet-Biedl syndrome (BBS1-related) is an autosomal recessive disease with symptoms including rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotrophic hypogonadism, complex female genitourinary malformations, and renal abnormalities. Individuals experience night blindness by childhood and are diagnosed with legal blindness by an average age of 15 years. While most patients are expected to survive into adulthood, earlier death may occur when renal disease is severe. While there are a total of 18 genes associated with Bardet-Biedl syndrome, pathogenic BBS1 variants tend to be associated with less severe ophthalmologic involvement. Pathogenic variants in BBS1 are most commonly identified among individuals of Faroese descent. No genotype-phenotype correlation has been reported.
For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.