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Bardet-Biedl syndrome

Congenital Malformations and Chromosomal Abnormalities

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.

Facts
Causative Agent
Causative Agent (category)
Genetic / Hereditary 2
Classification
Body System
Eye 1
Sources
1. National Library of Medicine MeSH: MeSH descriptor Bardet-Biedl Syndrome
National Library of Medicine MeSHMeSH tree number
Quote, 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> .
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2. Bardet-Biedl syndrome (Wikipedia)
Lead sentence
Quote, Lead sentence
is a ciliopathic human genetic disorder that produces many effects
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