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Bardet-Biedl syndrome

Reviewed September 2013

What is Bardet-Biedl syndrome?

Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.

Vision loss is one of the major features of Bardet-Biedl syndrome. Loss of vision occurs as the light-sensing tissue at the back of the eye (the retina) gradually deteriorates. Problems with night vision become apparent by mid-childhood, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood.

Obesity is another characteristic feature of Bardet-Biedl syndrome. Abnormal weight gain typically begins in early childhood and continues to be an issue throughout life. Complications of obesity can include type 2 diabetes, high blood pressure (hypertension), and abnormally high cholesterol levels (hypercholesterolemia).

Other major signs and symptoms of Bardet-Biedl syndrome include the presence of extra fingers and/or toes (polydactyly), intellectual disability or learning problems, and abnormalities of the genitalia. Most affected males produce reduced amounts of sex hormones (hypogonadism), and they are usually unable to father biological children (infertile). Many people with Bardet-Biedl syndrome also have kidney abnormalities, which can be serious or life-threatening.

Additional features of Bardet-Biedl syndrome can include impaired speech, delayed development of motor skills such as standing and walking, behavioral problems such as emotional immaturity and inappropriate outbursts, and clumsiness or poor coordination. Distinctive facial features, dental abnormalities, unusually short or fused fingers and/or toes, and a partial or complete loss of the sense of smell (anosmia) have also been reported in some people with Bardet-Biedl syndrome. Additionally, this condition can affect the heart, liver, and digestive system.

How common is Bardet-Biedl syndrome?

In most of North America and Europe, Bardet-Biedl syndrome has a prevalence of 1 in 140,000 to 1 in 160,000 newborns. The condition is more common on the island of Newfoundland (off the east coast of Canada), where it affects an estimated 1 in 17,000 newborns. It also occurs more frequently in the Bedouin population of Kuwait, affecting about 1 in 13,500 newborns.

What genes are related to Bardet-Biedl syndrome?

Bardet-Biedl syndrome can result from mutations in at least 14 different genes (often called BBS genes). These genes are known or suspected to play critical roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of many types of cells. They are involved in cell movement and many different chemical signaling pathways. Cilia are also necessary for the perception of sensory input (such as sight, hearing, and smell). The proteins produced from BBS genes are involved in the maintenance and function of cilia.

Mutations in BBS genes lead to problems with the structure and function of cilia. Defects in these cell structures probably disrupt important chemical signaling pathways during development and lead to abnormalities of sensory perception. Researchers believe that defective cilia are responsible for most of the features of Bardet-Biedl syndrome.

About one-quarter of all cases of Bardet-Biedl syndrome result from mutations in the BBS1 gene. Another 20 percent of cases are caused by mutations in the BBS10 gene. The other BBS genes each account for only a small percentage of all cases of this condition. In about 25 percent of people with Bardet-Biedl syndrome, the cause of the disorder is unknown.

In affected individuals who have mutations in one of the BBS genes, mutations in additional genes may be involved in causing or modifying the course of the disorder. Studies suggest that these modifying genes may be known BBS genes or other genes. The additional genetic changes could help explain the variability in the signs and symptoms of Bardet-Biedl syndrome. However, this phenomenon appears to be uncommon, and it has not been found consistently in scientific studies.

Related Gene(s)

Changes in these genes are associated with Bardet-Biedl syndrome.

  • ARL6
  • BBS1
  • BBS10
  • BBS12
  • BBS2
  • BBS4
  • BBS5
  • BBS7
  • BBS9
  • CEP290
  • MKKS
  • MKS1
  • TRIM32
  • TTC8

How do people inherit Bardet-Biedl syndrome?

Bardet-Biedl syndrome is typically inherited in an autosomal recessive pattern, which means both copies of a BBS gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of Bardet-Biedl syndrome?

These resources address the diagnosis or management of Bardet-Biedl syndrome and may include treatment providers.

  • Gene Review: Bardet-Biedl Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1363)
  • Genetic Testing Registry: Bardet-Biedl syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0752166)
  • MedlinePlus Encyclopedia: Obesity (http://www.nlm.nih.gov/medlineplus/ency/article/007297.htm)
  • MedlinePlus Encyclopedia: Polydactyly (http://www.nlm.nih.gov/medlineplus/ency/article/003176.htm)

You might also find information on the diagnosis or management of Bardet-Biedl syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/bardet-biedl-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/bardet-biedl-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Bardet-Biedl syndrome?

You may find the following resources about Bardet-Biedl syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Bardet-Biedl syndrome?

  • BBS
  • Laurence-Moon-Bardet-Biedl syndrome
  • Laurence-Moon-Biedl syndrome
  • Laurence-Moon syndrome
  • LMBBS
  • LMS

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Bardet-Biedl syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Bardet-Biedl syndrome?

anosmia ; autosomal ; autosomal recessive ; brachydactyly ; cell ; cholesterol ; diabetes ; digestive ; digestive system ; disability ; end-stage renal disease ; gene ; genitalia ; hypertension ; hypogonadism ; infertile ; inherited ; kidney ; motor ; perception ; peripheral ; polydactyly ; population ; prevalence ; recessive ; renal ; renal disease ; retina ; stage ; syndactyly ; syndrome ; tissue ; visual acuity

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature. 2003 Oct 9;425(6958):628-33. Epub 2003 Sep 21. (http://www.ncbi.nlm.nih.gov/pubmed/14520415?dopt=Abstract)
  • Baker K, Beales PL. Making sense of cilia in disease: the human ciliopathies. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):281-95. doi: 10.1002/ajmg.c.30231. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19876933?dopt=Abstract)
  • Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet. 1999 Jun;36(6):437-46. (http://www.ncbi.nlm.nih.gov/pubmed/10874630?dopt=Abstract)
  • Beales PL. Lifting the lid on Pandora's box: the Bardet-Biedl syndrome. Curr Opin Genet Dev. 2005 Jun;15(3):315-23. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15917208?dopt=Abstract)
  • Gene Review: Bardet-Biedl Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1363)
  • Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, Scambler PJ, Davidson WS, Beales PL, Lupski JR. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science. 2001 Sep 21;293(5538):2256-9. (http://www.ncbi.nlm.nih.gov/pubmed/11567139?dopt=Abstract)
  • Katsanis N. The oligogenic properties of Bardet-Biedl syndrome. Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R65-71. Epub 2004 Feb 19. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14976158?dopt=Abstract)
  • Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Hellé S, Marion V, Bennouna-Greene V, Vicaire S, Megarbane A, Kaplan J, Drouin-Garraud V, Hamdani M, Sigaudy S, Francannet C, Roume J, Bitoun P, Goldenberg A, Philip N, Odent S, Green J, Cossée M, Davis EE, Katsanis N, Bonneau D, Verloes A, Poch O, Mandel JL, Dollfus H. Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. Hum Genet. 2010 Mar;127(5):583-93. doi: 10.1007/s00439-010-0804-9. Epub 2010 Feb 23. (http://www.ncbi.nlm.nih.gov/pubmed/20177705?dopt=Abstract)
  • Tobin JL, Beales PL. Bardet-Biedl syndrome: beyond the cilium. Pediatr Nephrol. 2007 Jul;22(7):926-36. Epub 2007 Mar 15. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17357787?dopt=Abstract)
  • Zaghloul NA, Katsanis N. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest. 2009 Mar;119(3):428-37. doi: 10.1172/JCI37041. Epub 2009 Mar 2. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19252258?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: September 2013
Published: September 22, 2014