Bardet Biedl Syndrome

Bardet–Biedl syndrome (BBS) consists of eye disease(rod-cone dystrophy), skeletal abnormality (polydactyly, brachydactyly, and syndactyly), obesity, reduced intelligence, renal dysfunction, and male genital anomaly (hypogonadism). Some features manifest at in the first decade of life with polydactyly as a congenital feature.

The other commonly associated secondary features include hepatic fibrosis, endocrinological disturbances such as diabetes mellitus, hypercholesterolemia, and reproductive abnormalities, short stature, speech defects, and developmental delay. In view of such diverse clinical manifestations, a criterion for the precise diagnosis of BBS requires either a combination of three primary and two secondary features or only four primary features.

We know BBS is biologically classified as a ciliopathy, due to functional relevance of BBS genes in ciliary biogenesis and trafficking. The prevalence of the BBS varies between isolated, inbred (Bedouin and Newfoundland – 1:13,500 and 1:16,000), consanguineous (Arab – 1:65,000), and other populations (North America and Europe – 1:140,000 and 1:160,000 aspect of BBS.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5151149/?report=printable

13 March 2020 BBS