Bardet-Biedl Syndrome (BBS10-Related) (BBS10)

Bardet-Biedl syndrome (BBS10-related) is an autosomal recessive, pan-ethnic disease caused by pathogenic variants in the gene BBS10. Symptoms include 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, patients with pathogenic variants in the BBS10 gene tend to have significantly higher insulin resistance and visceral adiposity. No genotype-phenotype correlation has been reported.

For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.