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Genetic and Rare Diseases Information Center (GARD)

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Bardet-Biedl syndrome

Other Names for this Disease
  • BBS
  • Biedl-Bardet Syndrome
  • Laurence Moon Bardet Biedl syndrome
  • Laurence Moon syndrome
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Bardet-Biedl syndrome is an inherited condition that affects many parts of the body. People with this condition have progressive visual impairment due to cone-rod dystrophy, extra fingers or toes (polydactyly), truncal obesity, decreased function of the male gonads (hypogonadism), kidney abnormalities, and learning difficulties.[1] At least 14 genes are known to be associated with Bardet-Biedl syndrome.[2] This condition is usually inherited in an autosomal recessive pattern.[2]
Last updated: 6/10/2013


  1. Bardet Biedl Syndrome. National Organization for Rare Disorders. 2007; Accessed 6/10/2013.
  2. Waters AM, Beales PL. Bardet-Biedl Syndrome. GeneReviews. September 29, 2011; Accessed 6/10/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Bardet-Biedl syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Bardet-Biedl syndrome. Click on the link to view a sample search on this topic.