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 126 free, full-text research articles on human participants. First 3 results:

Ovarian teratomas in a patient with Bardet-Biedl syndrome, a rare association.
 

Author(s): Irina Tica, Oana Sorina Tica, Alina Doina Nicoară, Vlad Iustin Tica, Andrei Adrian Tica

Journal: Rom J Morphol Embryol. 2016 ;57(4):1403-1408.

 

Bardet-Biedl syndrome (BBS) represents a rare ciliopathy recessive autosomal inherited. The main clinical features are retinal dystrophy, postaxial polydactyly, obesity, different degrees of cognitive deficit, renal impairment, hypogonadism and genital malformations. The genetic explanation ...

Last Updated: 8 Feb 2017

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Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.
 

Author(s): Gabriella Esposito, Francesco Testa, Miriam Zacchia, Anna Alessia Crispo, Valentina Di Iorio, Giovanna Capolongo, Luca Rinaldi, Marcella D'Antonio, Tiziana Fioretti, Pasquale Iadicicco, Settimio Rossi, Annamaria Franzè, Elio Marciano, Giovanbattista Capasso, Francesca Simonelli, Francesco Salvatore

Journal:

 

Bardet-Biedl syndrome (BBS) is a rare genetic disorder that features retinal degeneration, obesity, polydactyly, learning disabilities and renal abnormalities. The diagnosis is often missed at birth, the median age at diagnosis being 9 years. In the attempt to shed light on BBS and ...

Last Updated: 1 Feb 2017

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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
 

Author(s): Anna Lindstrand, Stephan Frangakis, Claudia M B Carvalho, Ellen B Richardson, Kelsey A McFadden, Jason R Willer, Davut Pehlivan, Pengfei Liu, Igor L Pediaditakis, Aniko Sabo, Richard Alan Lewis, Eyal Banin, James R Lupski, Erica E Davis, Nicholas Katsanis

Journal: Am. J. Hum. Genet.. 2016 Aug;99(2):318-36.

 

Bardet-Biedl syndrome (BBS) is a defining ciliopathy, notable for extensive allelic and genetic heterogeneity, almost all of which has been identified through sequencing. Recent data have suggested that copy-number variants (CNVs) also contribute to BBS. We used a custom oligonucleotide ...

Last Updated: 4 Aug 2016

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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 7 free, full-text review articles on human participants. First 3 results:

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: 17 Nov 2016

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Bardet-Biedl syndrome: Is it only cilia dysfunction?
 

Author(s): Rossina Novas, Magdalena Cardenas-Rodriguez, Florencia Irigoín, Jose L Badano

Journal: FEBS Lett.. 2015 Nov;589(22):3479-91.

 

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic disorder, characterized by both congenital and late onset defects. From the analysis of the mutational burden in patients to the functional characterization of the BBS proteins, this syndrome has become a model ...

Last Updated: 9 Nov 2015

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[Bardet-Biedl syndrome: cilia and obesity - from genes to integrative approaches].
 

Author(s): Kirsley Chennen, Maria Julia Scerbo, Hélène Dollfus, Olivier Poch, Vincent Marion

Journal: Med Sci (Paris). 2014 Nov;30(11):1034-9.

 

The primary cilium is a specialized organelle, present at the surface of most eukaryotic cells, whose main function is to detect, integrate and transmit intra- and extra-cellular signals. Its dysfunction usually results in a group of severe clinical manifestations nowadays termed ...

Last Updated: 12 Nov 2014

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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: 12 Sep 2016

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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

 

Last Updated: 10 Aug 2017

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UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
 

Status: Recruiting

Condition Summary: Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

 

Last Updated: 15 Sep 2017

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