Bardet-Biedl Syndrome

Overview

What is Bardet-Biedl Syndrome?

Bardet-Biedl syndrome is a genetic disorder that affects many different body systems; it is known to cause progressive vision loss, extra fingers and/or toes, obesity, underdeveloped gonads—which can lead to infertility—kidney problems, and learning problems.

References
  • http://rarediseases.org/rare-diseases/bardet-biedl-syndrome/
  • http://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome
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Are there other names for Bardet-Biedl Syndrome?

What is the usual abbreviation for Bardet-Biedl Syndrome?

How common is Bardet-Biedl Syndrome?

Are there other names for Bardet-Biedl Syndrome?

Other names for Bardet-Biedl syndrome include Bardet-Biedl syndrome and (less commonly) Laurence-Moon-Bardet-Biedl syndrome.

References
  • http://rarediseases.org/rare-diseases/bardet-biedl-syndrome/
What is the usual abbreviation for Bardet-Biedl Syndrome?

Bardet-Biedl syndrome is usually abbreviated BBS.

“BBS1-related” indicates that Bardet-Biedl syndrome is caused by a change in the BBS1 gene.

References
  • http://rarediseases.org/rare-diseases/bardet-biedl-syndrome/
  • http://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome
How common is Bardet-Biedl Syndrome?

Bardet-Biedl syndrome occurs in one out of between 140,000 and 160,000 newborns in North America and Europe. Bardet-Biedl syndrome is more common in Newfoundland (located off the east coast of Canada), occurring in about 1/17,000 newborns. Bardet-Biedl syndrome is also more common in Kuwait, specifically among the Bedouin population, occurring in about 1/13,500 newborns. Approximately 25%-30% of all cases of Bardet-Biedl syndrome are Bardet-Biedl syndrome (BBS1-related).

References
  • http://rarediseases.org/rare-diseases/bardet-biedl-syndrome/
  • http://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome

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