Bardet-Biedl syndrome 1
Other Names for this Disease
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cone-rod dystrophy, extra fingers or toes (polydactyly), truncal obesity, decreased function of the male gonads (hypogonadism), kidney abnormalities, and learning difficulties. At least 14 genes are known to be associated with Bardet-Biedl syndrome and 5 additional genes may also be associated with this condition. This condition is usually inherited in an autosomal recessive pattern. Until recently, Laurence-Moon syndrome has been associated with Bardet-Biedl syndrome but newer research determined that they are different conditions. The diagnosis is based on the clinical findings. There is still no cure and treatment is directed to the problems that are present.Bardet-Biedl syndrome is an inherited condition that affects many parts of the body. People with this condition have progressive visual impairment due to
Last updated: 6/17/2015
- 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.
- Forsythe E, Beales PL. Bardet-Biedl Syndrome. GeneReviews. February 20, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1363/. Accessed 6/27/2014.
- Hufnagel RB & cols. Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet. February, 2015; 52(2):85-94.
- 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.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.