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
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Prevalence Band 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. Monarch Initiative: Bardet-Biedl syndrome - Monarch Initiative MONDO:0015229
Monarch InitiativeCross reference: ICD10CMQuote, Cross reference: ICD10CM
ICD10CM:Q87.83
View the Source 3. National Cancer Institute (NCI Thesaurus): Bardet-Biedl syndrome - NCI Thesaurus concept C118632
National Cancer Institute (NCI Thesaurus)DefinitionQuote, Definition
An autosomal recessive inherited syndrome caused by mutations in at least fourteen different genes, called BBS genes.
View the Source 4. MedlinePlus Genetics (U.S. National Library of Medicine): Bardet-Biedl syndrome - MedlinePlus Genetics
MedlinePlus Genetics (U.S. National Library of Medicine)Description and InheritanceQuote, Description and Inheritance
Bardet-Biedl syndrome is typically inherited in
View the Source 5. Bardet-Biedl syndrome (Wikipedia)
Lead sentenceQuote, Lead sentence
is a ciliopathic human genetic disorder that produces many effects
View the Source 6. Orphadata (Orphanet): Orphadata: Epidemiology of rare diseases (en_product9_prev)
Orphadata (Orphanet)ORPHA:110Quote, ORPHA:110
Point prevalence Value and class 1-9 / 100 000
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