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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
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Your Question

What about siblings of people with Bardet-Biedl syndrome?

Our Answer

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

How is Bardet-Biedl syndrome inherited?

Bardet-Biedl syndrome has an autosomal recessive pattern of inheritance.[1] People with this syndrome have mutations in both copies of a gene associated with Bardet-Biedl syndrome. These people typically have unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers). When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier, and a 25% chance to not have the condition and not be a carrier (i.e. have 2 normal copies of the gene). An affected individual's full siblings who do not have Bardet-Biedl syndrome have approximately a 66 % (2/3) chance of being a carrier for the condition. Autosomal recessive disorders are typically not seen in every generation of an affected family.
Last updated: 10/3/2011