BardetBiedl

Bardet-Biedl syndrome, commonly abbreviated as BBS, is a rare autosomal recessive ciliopathy characterized by a variable constellation of features. It results from mutations in multiple genes involved in ciliary structure and function, with the BBSome complex playing a central role in intraflagellar trafficking.

Common features arise in childhood and include progressive retinal dystrophy with night blindness and peripheral vision loss, obesity starting early in life, and post-axial polydactyly. Hypogonadism, kidney abnormalities, and learning difficulties are also frequent. The presentation is highly variable.

Genetics: BBS is caused by mutations in more than a dozen genes. Inheritance is autosomal recessive. The disease is a ciliopathy, as the affected gene products localize to cilia and disrupt signaling pathways critical for development and organ maintenance.

Diagnosis relies on clinical criteria and genetic testing. Gene panels or exome sequencing identify causal variants. Management is multidisciplinary and supportive, including ophthalmologic care, obesity management, regular renal monitoring, hormonal therapy when appropriate, and educational support.

Prognosis varies with renal and other organ involvement. With comprehensive care, many individuals maintain quality of life, though kidney disease can drive morbidity. Ongoing research aims to clarify genotype–phenotype relationships and develop targeted therapies.