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Diseases

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
  • LMBBS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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.[2] This condition is usually inherited in an autosomal recessive pattern.[2]
Last updated: 6/27/2014

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.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

4 question(s) from the public on Bardet-Biedl syndrome have been answered. See questions and answers. You can also submit a new question.

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.
Other Names for this Disease
  • BBS
  • Biedl-Bardet Syndrome
  • Laurence Moon Bardet Biedl syndrome
  • Laurence Moon syndrome
  • LMBBS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.