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Diseases

Genetic and Rare Diseases Information Center (GARD)

Bardet-Biedl syndrome 1


Other Names for this Disease
  • BBS1
Related Diseases
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Overview

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 and 5 additional genes may also be associated with this condition.[2] This condition is usually inherited in an autosomal recessive pattern.[2] Until recently, Laurence-Moon syndrome has been associated with Bardet-Biedl syndrome but newer research determined that they are different conditions.[3] The diagnosis is based on the clinical findings.  There is still no cure and treatment is directed to the problems that are present.
Last updated: 6/17/2015

References

  1. Bardet Biedl Syndrome. National Organization for Rare Disorders. 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/988/viewAbstract. Accessed 6/27/2014.
  2. Forsythe E, Beales PL. Bardet-Biedl Syndrome. GeneReviews. February 20, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1363/. Accessed 6/27/2014.
  3. Hufnagel RB & cols. Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet. February, 2015; 52(2):85-94.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Bardet-Biedl syndrome 1. 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

  • Online Mendelian Inheritance in Man (OMIM) is a 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 1. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • BBS1
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.