Bardet–Biedl syndrome

Bardet–Biedl syndrome is a rare inherited ciliopathy that can cause retinal degeneration, extra fingers or toes, obesity, kidney abnormalities, and variable developmental features. Its signs vary widely, even among people with the same genetic cause.

Primary cilium: A usually immotile cell projection that senses signals and coordinates cellular processes. Bardet–Biedl proteins help build and operate this structure, whose dysfunction links symptoms across tissues.
Retinitis pigmentosa: A group of inherited retinal disorders that progressively damage rod and cone photoreceptors. Retinal degeneration in the syndrome often resembles this progressive disease.
BBS1: A gene that encodes a component of the BBSome and is a frequent cause of Bardet–Biedl syndrome. Variants in this gene account for a substantial share of diagnosed cases.
Leber congenital amaurosis: A group of severe inherited retinal disorders causing profound visual impairment from infancy. It highlights how BBS-related retinal disease differs from other early-onset retinal conditions.
Bardet–Biedl syndrome proteins: Proteins encoded by BBS genes that contribute to cilium formation, trafficking, and signaling. Their disrupted functions provide the molecular route from inherited variants to the syndrome.
Polydactyly: The presence of one or more extra fingers or toes. This congenital feature is a recognizable clue to Bardet–Biedl syndrome.
BBS10: A gene encoding a chaperonin-like protein involved in BBSome assembly. Pathogenic variants here are a common cause, especially in some populations.
Nephronophthisis: An inherited kidney disease that causes progressive tubulointerstitial damage and kidney failure. It helps distinguish isolated ciliopathy-related kidney disease from multisystem Bardet–Biedl syndrome.
BBSome: A protein complex that transports selected proteins into and out of cilia. Many syndrome-associated proteins form this complex, which helps maintain ciliary signaling.
Genetic testing: The analysis of DNA to identify variants associated with disease or inherited traits. Testing can confirm a suspected diagnosis and identify the BBS gene involved.

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