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What is Bardet-Biedl Syndrome?
Bardet-Biedl syndrome is a complex disorder that affects many parts of
the body including the retina. Individuals with this syndrome have a
retinal degeneration similar to retinitis pigmentosa (RP).
What are the symptoms?
The diagnosis of Bardet-Biedl syndrome is usually confirmed in
childhood when visual problems due to RP are discovered.
The first symptom of RP is night blindness. Night blindness makes it
difficult to see in low light levels. RP then causes a progressive loss
of peripheral (side) vision.
Peripheral vision loss is often referred to as tunnel vision.
Individuals with Bardet-Biedl also experience central vision loss
during childhood or adolescence. RP symptoms progress rapidly and
usually lead to severe visual impairment by early adulthood.
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.
Many individuals are also shorter than average.
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. Individuals may also
experience renal (kidney) disease.
Renal abnormalities can affect the structure and the function of the
kidneys and can lead to severe renal impairment.
Upon reaching adulthood, males with Bardet-Biedl syndrome can have
small genitalia (testes and penis). Because female sexual organ size is
more difficult to assess, it is not known how many women have this
characteristic. Females with Bardet-Biedl can experience irregular
Is it an inherited disease?
Bardet-Biedl syndrome is genetically passed through families by the
autosomal recessive pattern of inheritance. In this type of inheritance
both parents, called carriers, have one gene for the syndrome paired
with one normal gene. Each of their children then has a 25 percent
chance (or 1 chance in 4) of inheriting the two Bardet-Biedl genes (one
from each parent) needed to cause the disorder.
Carriers are unaffected because they have only one copy of the gene. At
this time, it is impossible to determine who is a carrier for
Bardet-Biedl syndrome until after the birth of an affected child.
What treatment is available?
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. Researchers have identified 12 genes that are linked to
Bardet-Biedl syndrome, giving them clear targets for treatment
To manage the complications of renal disease associated with
Bardet-Biedl syndrome, every individual with the disorder should be
examined by a nephrologist, a physician who specializes in kidney
Are there other related syndromes?
Bardet-Biedl syndrome is often confused with Laurence-Moon syndrome.
Individuals with Laurence-Moon syndrome almost always experience
neurologic problems but rarely polydactyly.
Polydactyly is a defining feature of Bardet-Biedl syndrome, while
neurologic problems almost never occur. Laurence-Moon syndrome is
extremely rare; only a few cases have been documented. Because of the
similarity of these syndromes, Bardet-Biedl syndrome is often referred
to as Laurence-Moon/Bardet-Biedl syndrome or Laurence-Moon/Biedl
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