The Bardet-Biedl syndrome is a a syndrome characterized mainly by obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism, and renal failure in fatal cases.

The syndrome is named after Georges Bardet and Arthur Biedl.

Two forms have been identified:

Bardet-Biedl syndrome 1 (BBS1) has no linkage to chromosome 16
Bardet-Biedl syndrome 2 (BBS2) is mapped to markers on chromosome 16.

Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet syndrome are no longer considered as valid terms in that patients of Laurence and Moon had paraplegia but no polydactyly and obesity which are the key elements of the Bardet-Biedl the syndrome. Laurence-Moon syndrome is a separate entity.

Major features

Eyes: Pigmentary retinopathy.
Hand and foot: Polydactyly.
Cardiovascular system: Hypertrophy of interventricular septum and left ventricle and dilated cardiomyopathy.
Gastrointestinal system: Fibrosis.
Urogenital system: Hypogonadism, renal failure, urogenital sinuses, ectopic urethra, uterus duplex, septate vagina, and hypoplasia of the uterus, ovaries, and fallopian tubes.
Growth and development: Mental and growth retardation.
Behavior and performance: Poor visual acuity and blindness.
Heredity: The syndrome is familial and is transmitted as an autosomal recessive trait. chromosome 3 locus appears to be linked to polydactyly of all four limbs, whereas chromosome 15 is associated with early-onset morbid obesity and is mostly confined to the hands, and chromosome 16 represents the "leanest" form.
Additional features: Obesity.

Cause

The detail biochemical mechanism that leads to BBS is still unclear. Recently, eight genes (BBS1 to BBS8) that are responsible for the disease when mutated have been cloned, and most of the gene products encoded by these BBS genes are located in the basal body and cilia of the cell. It has been postulated that these BBS gene products might involve in the cell signaling pathway in the cilia, and these signaling systems play an essential role in the normal development so that a malfunction in these systems causes the diverse pathological effects of the Syndrome.

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	Biochemists focus on BBS.(Michel Leroux and Oliver Blacque's research on Bardet-Biedl Syndrome ) : An article from: Canadian Chemical News $5.95	The (Laurence Moon) Bardet Biedl syndrome (Van Gorcum's medical collection, no. 207)


Genetic disorder traced to cilia - Obesity - Bardet-Biedl syndrome A potential new contributor to obesity--faulty cilia--has been discovered by researchers at Johns Hopkins University, Baltimore, Md. Many a high school ... From USA Today (Society for the Advancement of Education), 2/1/04

Mutations Cause Eye Disorder - enhanced S-cone syndrome - Brief Article Mutations Cause Eye Disorder.(enhanced S-cone syndrome) From Applied Genetics News, 2/1/00

Molecular evidence of Pneumocystis transmission in pediatric transplant unit We describe an outbreak of Pneumocystis jirovecii pneumonia in a pediatric renal transplant unit, likely attributable to patient-to-patient transmission. From Emerging Infectious Diseases, 2/1/05 by Britta Hocker

Obesity in Children and Adolescents: Guidelines for Prevention and Management The National Health and Nutrition Examination Survey, sponsored by the National Center for Health Statistics, found that the percentage of overweight and obese children and adolescents in the year 20 From Nurse Practitioner, 8/1/04 by Holcomb, Susan Simmons

GENOMICS: Bardet-Biedle Gene Identified Researchers have identified a gene mutation that causes Bardet- Biedl syndrome (BBS), a rare genetic disorder that can lead to mental retardation. The ... From Applied Genetics News, 9/1/00

STARS PUT ON THEIR JEANS TO BACK GENE RESEARCH THE SEARCH for the defective genes which cause a rare debilitating syndrome has led to a discovery which could also provide clues to how obesity and ... From Evening Standard (London), 10/9/00 by ZOE MORRIS

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