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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
Classification
Body System
Eye 1
ICD-10 Chapter
XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2
Communicable or Non-communicable
Non-Communicable 3
Transmission Route
Non-Transmissible 4
Causative Agent
Causative Agent (category)
Genetic / Hereditary 5
Prevalence Band
Rare (Under 1 in 2000) 6
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. Monarch Initiative: Bardet-Biedl syndrome - Monarch Initiative MONDO:0015229
Monarch InitiativeCross reference: ICD10CM
Quote, Cross reference: ICD10CM
ICD10CM:Q87.83
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3. National Cancer Institute (NCI Thesaurus): Bardet-Biedl syndrome - NCI Thesaurus concept C118632
National Cancer Institute (NCI Thesaurus)Definition
Quote, Definition
An autosomal recessive inherited syndrome caused by mutations in at least fourteen different genes, called BBS genes.
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4. MedlinePlus Genetics (U.S. National Library of Medicine): Bardet-Biedl syndrome - MedlinePlus Genetics
MedlinePlus Genetics (U.S. National Library of Medicine)Description and Inheritance
Quote, Description and Inheritance
Bardet-Biedl syndrome is typically inherited in
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5. Bardet-Biedl syndrome (Wikipedia)
Lead sentence
Quote, Lead sentence
is a ciliopathic human genetic disorder that produces many effects
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6. Orphadata (Orphanet): Orphadata: Epidemiology of rare diseases (en_product9_prev)
Orphadata (Orphanet)ORPHA:110
Quote, ORPHA:110
Point prevalence Value and class 1-9 / 100 000
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