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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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Symptoms


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What are the signs and symptoms of Bardet-Biedl syndrome?

Bardet-Biedl syndrome (BBS) affects many parts of the body, and signs and symptoms of the condition can vary among affected individuals. One of the major features of BBS is progressive vision loss due to deterioration of the retina. Typically, this begins in mid-childhood with problems with night vision and is followed by the development of blind spots in the peripheral vision. These blind spots become bigger with time and eventually merge to produce tunnel vision. Most individuals also develop blurred central vision and become legally blind by adolescence or early adulthood.[1]

Other major signs and symptoms of BBS include obesity (which can cause type 2 diabetes, high blood pressure, and abnormally high cholesterol levels); kidney abnormalities; the presence of extra fingers and/or toes (polydactyly); intellectual disability or learning problems; and abnormalities of the genitalia. Most affected males are infertile because they produce reduced amounts of sex hormones. Other characteristics of the condition may include impaired speech; delayed development of motor skills; behavioral problems; and poor coordination. Additional features that have been reported in some people with BBS include distinctive facial features; dental abnormalities; unusually short or fused fingers and/or toes; a partial or complete loss of the sense of smell (anosmia); and other abnormalities.[1]
Last updated: 10/3/2011

References
  1. Bardet-Biedl syndrome. Genetics Home Reference. May 2010; http://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome. Accessed 10/3/2011.