Complete Information on Bardet-biedl Syndrome 1

| Posted: 16-05-2008 | Comments: 0 | Views: 2 | Rating: (157)

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Bardet-Biedl syndrome is a genetic disorder. Bardet-Biedl syndrome is a complex disorder that affects many parts of the body including the retina. This syndrome have a retinal degeneration similar to retinitis pigmentosa (RP). 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.

A malfunction in these systems causes the diverse pathological effects of the Syndrome. Bardet-Biedl also experience central vision loss during childhood or adolescence. In addition to RP, polydactyly (extra fingers and/or toes) and obesity are defining characteristics of Bardet-Biedl syndrome. A diagnosis of Bardet-Biedl syndrome is usually first suspected when a child is born with polydactyly. Subsequent RP symptoms and obesity confirm the diagnosis. Extra fingers and toes are usually removed in infancy or early childhood. Slight webbing (extra skin) between fingers and between toes is also common.

Most individuals have short, broad feet as well. Obesity may be present by childhood and is usually limited to the trunk of the body. Obesity usually begins in childhood and the severity increases with age, with the majority of cases exhibiting symptoms within the first year of life. Approximately half of all individuals with Bardet-Biedl syndrome experience developmental disabilities ranging from mild impairment or delayed emotional development to mental retardation. The degree of mental retardation can range from mild cognitive disability to severe mental retardation. Renal abnormalities can affect the structure.

The function of the kidneys and can lead to severe renal impairment. Bardet-Biedl syndrome is genetically passed through families by the autosomal recessive pattern of tradition. Renal dysfunction has been recognized only recently to be a component of the BBS clinical phenotype. There are no treatments for all of the characteristics associated with Bardet-Biedl syndrome. As vision worsens, individuals will benefit from the use of low-vision aids and orientation as well as from mobility training. To manage the complications of renal disease associated with Bardet-Biedl syndrome, every individual with the disorder should be examined by a nephrologist.

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