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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
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Treatment


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How might Bardet-Biedl syndrome be treated?

There is no cure for Bardet-Biedl syndrome. Treatment generally focuses on the specific signs and symptoms that each individual has. Although there is no therapy for the progressive vision loss, early evaluation by a specialist can help to provide vision aids and mobility training. Furthermore, the education of affected children should include planning for future blindness. The management of obesity may include education, diet, exercise, and behavioral therapies beginning at an early age. Complications of obesity, such as abnormally high cholesterol and diabetes mellitus, are usually treated as they are in the general population. Management of intellectual disability includes early intervention, special education and speech therapy as needed. Many affected adults are able to develop independent living skills.

Although kidney transplants have been successful, the immunosuppressants used after a transplant may contribute to obesity. Affected individuals may undergo surgical correction of polydactyly (extra fingers and/or toes) and genital abnormalities. As children approach puberty, hormone levels should be monitored to determine if hormone replacement therapy is necessary. Additionally, it should not be assumed that affected individuals are infertile so contraception advice should be offered.[1]
Last updated: 10/24/2012

References
  1. Aoife M Waters, Philip L Beales. Bardet-Biedl syndrome. GeneReviews. September 29, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1363/. Accessed 10/3/2011.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Bardet-Biedl syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Genetic and Clinical Studies of Congenital Anomaly Syndromes (also known as Phenotype and Etiology of Pallister-Hall Syndrome) which may be of interest to you.