Bardet-Biedl syndrome

Genetic and Rare Diseases Information Center (GARD)

BBS
Biedl-Bardet Syndrome

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Bardet-Biedl syndrome
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Bardet-Biedl syndrome is an inherited condition that affects many parts of the body. People with this condition have progressive visual impairment due to cone-rod dystrophy, extra fingers or toes (polydactyly), truncal obesity, decreased function of the male gonads (hypogonadism), kidney abnormalities, and learning difficulties.^[2] At least 14 genes are known to be associated with Bardet-Biedl syndrome.^[1] This condition is usually inherited in an autosomal recessive pattern.^[1]

More about Bardet-Biedl syndrome

Información en español acerca Síndrome de Bardet-Biedl

References

Waters AM, Beales PL. Bardet-Biedl Syndrome. GeneReviews. October 13, 2009 Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bbs. Accessed February 9, 2010.
Bardet Biedl Syndrome. National Organization for Rare Disorders. 2007 Available at: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Bardet%20Biedl%20Syndrome. Accessed February 9, 2010.

Questions & Answers (Found 3 Questions)

A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.

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For more information about Bardet-Biedl syndrome click on the boxes below:

More Detailed Information	Organizations	Services	Scientific Conferences	Clinical Trials & Research

General \| Management Guidelines
More Detailed Information (Found 6 resources) Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. General Genetics Home Reference (GHR) contains information on Bardet-Biedl syndrome. Click on the link to go to GHR and review the information. The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic. The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Bardet-Biedl syndrome. Click on the link to go to OMIM and review these resources. Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic. PubMed is a searchable database of medical literature and lists journal articles that discuss Bardet-Biedl syndrome. Click on the link to view a sample search on this topic. Management Guidelines GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

General | Management Guidelines

More Detailed Information (Found 6 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates.

General
- Genetics Home Reference (GHR) contains information on Bardet-Biedl syndrome. Click on the link to go to GHR and review the information.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Bardet-Biedl syndrome. Click on the link to go to OMIM and review these resources.
- Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Bardet-Biedl syndrome. Click on the link to view a sample search on this topic.
Management Guidelines
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Disease-Specific Organizations \| Umbrella Organizations \| Social Networking Websites
Organizations (Found 9 resources) Groups providing a wide range of services, supportive resources, and information. Disease-Specific Organizations Laurence-Moon Bardet-Biedl Syndrome Association Web site: http://www.lmbbsa.org/ American Foundation for the Blind 2 Penn Plaza, Suite 1102 New York, NY 10121 Toll-free: 1-800-232-5463 Telephone: 212-502-7600 Fax: 888-545-8331 E-mail: afbinfo@afb.net Web site: http://www.afb.org/ Foundation Fighting Blindness 7168 Columbia Gateway Drive, Suite 100 Columbia, MD 21046 Toll-free: 1-800-683-5555 Telephone: 410-423-0600 (local) TDD: 800-683-5551 E-mail: info@fightblindness.org Web site: www.blindness.org Umbrella Organizations Genetic Alliance 4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2369 Telephone: 202-966-5557 Fax: 202-966-8553 E-mail: info@geneticalliance.org Web site: http://www.geneticalliance.org National Organization for Rare Disorders (NORD) 55 Kenosia Avenue PO Box 1968 Danbury, CT 06813-1968 Toll-free: 1-800-999-6673 (voicemail only) Telephone: 203-744-0100 TTY: 203-797-9590 Fax: 203-798-2291 E-mail: orphan@rarediseases.org Web site: http://www.rarediseases.org/ Social Networking Websites DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare. Click on the link to learn from their experiences and/or submit your own story. Madisons Foundation P.O. Box 241956 Los Angeles, CA 90024 Telephone: 310-264-0826 Fax: 310-264-4766 E-mail: getinfo@madisonsfoundation.org Web site: http://www.madisonsfoundation.org/ The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more. RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.

Disease-Specific Organizations | Umbrella Organizations | Social Networking Websites

Organizations (Found 9 resources)
Groups providing a wide range of services, supportive resources, and information.

Disease-Specific Organizations
- Laurence-Moon Bardet-Biedl Syndrome Association
  Web site: http://www.lmbbsa.org/
- American Foundation for the Blind
  2 Penn Plaza, Suite 1102
  New York, NY 10121
  Toll-free: 1-800-232-5463
  Telephone: 212-502-7600
  Fax: 888-545-8331
  E-mail: afbinfo@afb.net
  Web site: http://www.afb.org/
- Foundation Fighting Blindness
  7168 Columbia Gateway Drive, Suite 100
  Columbia, MD 21046
  Toll-free: 1-800-683-5555
  Telephone: 410-423-0600 (local)
  TDD: 800-683-5551
  E-mail: info@fightblindness.org
  Web site: www.blindness.org
Umbrella Organizations
- Genetic Alliance
  4301 Connecticut Avenue NW
  Suite 404
  Washington, DC 20008-2369
  Telephone: 202-966-5557
  Fax: 202-966-8553
  E-mail: info@geneticalliance.org
  Web site: http://www.geneticalliance.org
- National Organization for Rare Disorders (NORD)
  55 Kenosia Avenue
  PO Box 1968
  Danbury, CT 06813-1968
  Toll-free: 1-800-999-6673 (voicemail only)
  Telephone: 203-744-0100
  TTY: 203-797-9590
  Fax: 203-798-2291
  E-mail: orphan@rarediseases.org
  Web site: http://www.rarediseases.org/
Social Networking Websites
- DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare. Click on the link to learn from their experiences and/or submit your own story.
- Madisons Foundation
  P.O. Box 241956
  Los Angeles, CA 90024
  Telephone: 310-264-0826
  Fax: 310-264-4766
  E-mail: getinfo@madisonsfoundation.org
  Web site: http://www.madisonsfoundation.org/
- The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
- RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.

Testing \| Parent Resources
Services (Found 3 resources) Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more. Testing The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Parent Resources The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.

Testing | Parent Resources

Services (Found 3 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories.

- Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.
Testing
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Parent Resources
- The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.

Upcoming Conferences \| Past Conferences
Scientific Conferences (Found 3 resources) Resources where you can find information on completed and upcoming scientific conferences and programs. Upcoming Conferences RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012 Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: Direct instruction of trainees and new investigators in rare disease research methodology; Development of a reusable curriculum/syllabus on rare disease research methodology; Stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases Past Conferences 2011 Cilia, Mucus & Mucociliary Interactions Gordon Research Conference, February 13, 2011 - February 18, 2011 Description: By tradition, the work presented at a Gordon Research Conference (GRC) is expected to be at the frontiers of science and unpublished to ensure presentation of the most recent and novel data. This format allows presentation of the most recent “hottest” findings. No publication is permitted from these proceedings as per GRC guidelines. VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010 Location: Palais Rouge Convention Center, Palermo, Buenos Aires Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.

Upcoming Conferences | Past Conferences

Scientific Conferences (Found 3 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs.

Upcoming Conferences
- RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
  Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
  Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: Direct instruction of trainees and new investigators in rare disease research methodology; Development of a reusable curriculum/syllabus on rare disease research methodology; Stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases
Past Conferences
- 2011 Cilia, Mucus & Mucociliary Interactions Gordon Research Conference, February 13, 2011 - February 18, 2011
  Description: By tradition, the work presented at a Gordon Research Conference (GRC) is expected to be at the frontiers of science and unpublished to ensure presentation of the most recent and novel data. This format allows presentation of the most recent “hottest” findings. No publication is permitted from these proceedings as per GRC guidelines.
- VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
  Location: Palais Rouge Convention Center, Palermo, Buenos Aires
  Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.


Clinical Trials & Research (Found 4 resources) Resources where you may find research studies and clinical trials. ClinicalTrials.gov lists trials that are studying or have studied Bardet-Biedl syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies. The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Genetic and Clinical Studies of Congenital Anomaly Syndromes (also known as Phenotype and Etiology of Pallister-Hall Syndrome) which may be of interest to you. To find this trial, click on the link above. NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate. Patient Registry ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.

Clinical Trials & Research (Found 4 resources)
Resources where you may find research studies and clinical trials.

- ClinicalTrials.gov lists trials that are studying or have studied Bardet-Biedl syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
- The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Genetic and Clinical Studies of Congenital Anomaly Syndromes (also known as Phenotype and Etiology of Pallister-Hall Syndrome) which may be of interest to you. To find this trial, click on the link above.
- NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
Patient Registry
- ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.