Bardet-Biedl Syndrome

Common Name(s)

Bardet-Biedl Syndrome, Laurence-Moon-Bardet-Biedl syndrome, Laurence-Moon syndrome

Bardet-Biedl syndrome is a genetic condition that can result from mutations to a number of different genes. The condition affects many parts of the body, and is seen in about 1 of every 150,000 newborns. The primary symptom of Bardet-Biedl syndrome is blindness, beginning with night blindness (inability to see things in low light) in late childhood. Additionally, individuals with this condition may be born with polydactly (extra fingers or toes) and develop issues with weight gain that can lead to childhood obesity. About half of all children with Bardet-Biedl syndrome have developmental problems affecting speech, behavior, or intellectual ability, but these symptoms will vary. There is currently no treatment for this condition, but scientists have identified genes which cause this condition which may contribute to research efforts. Management of the disease depends on the severity of an individual's symptoms, but may include different aids for sight as vision worsens.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bardet-Biedl Syndrome" for support, advocacy or research.

Joubert Syndrome and Related Disorders Foundation

The mission of the Joubert Syndrome and Related Disorders Foundation is to support, educate, and serve individuals worldwide who are diagnosed with Joubert syndrome and other related disorders, and their families, friends, and caregivers. Our support networks create opportunities to connect with other families, researchers and/or medical professionals via a variety of mediums.

Last Updated: 19 May 2015

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Bardet Biedl Syndrome Family Association

Our Mission: Improve the lives of families affected by BBS through information, support and by advancing research and therapy Our Vision: Effective support, therapy, and treatment for all people affected by Bardet Biedl Syndrome

Last Updated: 14 Mar 2013

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Foundation Fighting Blindness

The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.

Last Updated: 22 Sep 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bardet-Biedl Syndrome" for support, advocacy or research.

Joubert Syndrome and Related Disorders Foundation

The mission of the Joubert Syndrome and Related Disorders Foundation is to support, educate, and serve individuals worldwide who are diagnosed with Joubert syndrome and other related disorders, and their families, friends, and caregivers. Our support networks create opportunities to connect with other families, researchers and/or medical professionals via a variety of mediums.

http://www.jsrdf.org

Last Updated: 19 May 2015

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Bardet Biedl Syndrome Family Association

Our Mission: Improve the lives of families affected by BBS through information, support and by advancing research and therapy Our Vision: Effective support, therapy, and treatment for all people affected by Bardet Biedl Syndrome

http://www.bardetbiedl.org/

Last Updated: 14 Mar 2013

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Foundation Fighting Blindness

The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.

http://www.blindness.org

Last Updated: 22 Sep 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Bardet-Biedl Syndrome" returned 139 free, full-text research articles on human participants. First 3 results:

Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.
 

Author(s): Sathya Priya Chandrasekar, Sheela Namboothiri, Parveen Sen, Sripriya Sarangapani

Journal: Indian J. Med. Res.. 2018 Feb;147(2):177-182.

 

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by multiple organ defects involving retina, kidney, liver and brain. Disease-causing mutations in BBS genes narrowed down by homozygosity mapping in small consanguineous and non-consanguineous ...

Last Updated: 31 Dec 1969

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Urine Proteomics Revealed a Significant Correlation Between Urine-Fibronectin Abundance and Estimated-GFR Decline in Patients with Bardet-Biedl Syndrome.
 

Author(s): Marianna Caterino, Miriam Zacchia, Michele Costanzo, Giuliana Bruno, Davide Arcaniolo, Francesco Trepiccione, Rosa Anna Siciliano, Maria Fiorella Mazzeo, Margherita Ruoppolo, Giovambattista Capasso

Journal: Kidney Blood Press. Res.. 2018 ;43(2):389-405.

 

/Aims: Renal disease is a common cause of morbidity in patients with Bardet-Biedl syndrome (BBS), however the severity of kidney dysfunction is highly variable. To date, there is little information on the pathogenesis, the risk and predictor factors for poor renal outcome in this ...

Last Updated: 31 Dec 1969

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The Bardet-Biedl syndrome protein complex is an adapter expanding the cargo range of intraflagellar transport trains for ciliary export.
 

Author(s): Peiwei Liu, Karl F Lechtreck

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2018 01;115(5):E934-E943.

 

Bardet-Biedl syndrome (BBS) is a ciliopathy resulting from defects in the BBSome, a conserved protein complex. BBSome mutations affect ciliary membrane composition, impairing cilia-based signaling. The mechanism by which the BBSome regulates ciliary membrane content remains unknown. ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Bardet-Biedl Syndrome" returned 9 free, full-text review articles on human participants. First 3 results:

Impact of Local and Systemic Factors on Kidney Dysfunction in Bardet-Biedl Syndrome.
 

Author(s): Miriam Zacchia, Giovanna Capolongo, Francesco Trepiccione, Vincent Marion

Journal: Kidney Blood Press. Res.. 2017 ;42(5):784-793.

 

Bardet Biedl syndrome (BBS) is a rare inherited syndromic condition characterized by renal and extra-renal disorders. Renal defect, at either structural or functional level, is one of the cardinal clinical features, and is a major cause of morbidity. However, the pathogenic mechanism ...

Last Updated: 31 Dec 1969

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Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease.
 

Author(s): A Panny, I Glurich, R M Haws, A Acharya

Journal: J. Dent. Res.. 2017 Nov;96(12):1361-1369.

 

Standardized guidelines for the oral health management of patients with rare diseases exhibiting morphologic anomalies are currently lacking. This review considers Bardet-Biedl syndrome (BBS), a monogenic autosomal recessive nonmotile ciliopathy, as an archetypal condition. Dental ...

Last Updated: 31 Dec 1969

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Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management.
 

Author(s): Sathya Priya, Sheela Nampoothiri, Parveen Sen, S Sripriya

Journal: Indian J Ophthalmol. 2016 Sep;64(9):620-627.

 

Primary cilia play a key role in sensory perception and various signaling pathways. Any defect in them leads to group of disorders called ciliopathies, and Bardet-Biedl syndrome (BBS, OMIM 209900) is one among them. The disorder is clinically and genetically heterogeneous, with various ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical Registry Investigating Bardet-Biedl Syndrome
 

Status: Recruiting

Condition Summary: Bardet-Biedl Syndrome

 

Last Updated: 30 Oct 2018

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Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement
 

Status: Not yet recruiting

Condition Summary: Bardet-Biedl Syndrome; Visual Impairment

 

Last Updated: 7 May 2018

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Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity
 

Status: Recruiting

Condition Summary: Pro-opiomelanocortin (POMC) Deficiency Obesity (Heterozygous or Epigenetic); Leptin Receptor Deficiency Obesity; Bardet-Biedl Syndrome; Alstrom Syndrome; Smith-Magenis Syndrome

 

Last Updated: 30 Oct 2018

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