Bardet–Biedl syndrome

"Laurence-Moon-Biedl syndrome" and "Laurence-Moon-Biedl-Bardet" redirect here. Not to be confused with Laurence–Moon syndrome.
Bardet–Biedl syndrome
Other namesBiedl-Bardet syndrome[1]
This condition is often inherited via autosomal recessive manner (including digenic recessive); but epigenetic phenomena also cause some of the variation seen in BBS.
SpecialtyMedical genetics 

Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction in some cases.[2] Historically, slower mental processing has also been considered a principal symptom but is now not regarded as such.

  1. ^ "Bardet-Biedl syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 13 August 2019.
  2. ^ Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA (June 1999). "New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey". Journal of Medical Genetics. 36 (6): 437–446. doi:10.1136/jmg.36.6.437. PMC 1734378. PMID 10874630. Archived from the original on 2008-03-14. Retrieved 2007-10-11.
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