Bardet-Biedl syndrome, abbreviated BBS, is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod and cone dystrophy of the retina, polydactyly, central obesity, hypogonadism and, in some cases, kidney dysfunction. Slower mental processing was historically considered a principal symptom of the syndrome but is now not regarded as such. The word ciliopathic places it among the disorders of the cilia, the tiny hair-like projections on cells. The source article gives no further detail in its lead, so this entry records only the defining features and leaves causes, genes and treatment to later depth work.
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Causative Agent
Causative Agent (category) Sources
1. National Library of Medicine MeSH: MeSH descriptor Bardet-Biedl Syndrome
National Library of Medicine MeSHMeSH tree numberQuote, MeSH tree number
<http://id.nlm.nih.gov/mesh/D020788> <http://id.nlm.nih.gov/mesh/vocab#treeNumber> <http://id.nlm.nih.gov/mesh/C11.270.684.624> .
View the Source 2. Bardet-Biedl syndrome (Wikipedia)
Lead sentenceQuote, Lead sentence
is a ciliopathic human genetic disorder that produces many effects
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