Bardet-Biedl Syndrome (BBS2-Related) (BBS2)

Bardet-Biedl syndrome (BBS2-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 BBS2 variants have been correlated with surface retinal wrinkling. Pathogenic variants in BBS2 are generally pan-ethnic, but are most common among those of Hutterite and Ashkenazi Jewish descent. No genotype-phenotype correlation has been reported.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):