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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.

Your Question

My mother is almost blind. Her diagnosis is Bardet-Biedl syndrome. She has no other symptoms besides being almost blind. Is there any cure or treatment for Bardet-Biedl syndrome anywhere in the world? Thank you very much.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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
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.