is a hereditary disease that affects many parts of the body.
pygmentary retinitis (night blindness and the progressive loss of the
peripheral vision), the mental delay, the hypogonadism, the renal damage
and the polydactylia (fingers extra in the feet), define the characteristics
of Bardet-Biedl's syndrome.
Two forms have
1, which does not have relation with the chromosome 16.
2, that has relation with the chromosome 16.
is transmitted genetically across the families by inheritance autosomic
recessive. In this type of inheritance, both parents are called carriers, they have a
gene of the syndrome paired with a normal gene.
Each of his children
have at the time a possibility of 25% (or an opportunity in four) of
inheriting both Bardet-Biedl's genes (one of every father) necessary to cause
this disease. The carriers are healthy because only they have a copy of the
gene. At this moment, it is impossible to determine if someone is a carrier of
Bardet-Biedl's syndrome but until the birth of an affected child.
The diagnosis of
Bardet-Biedl's syndrome is normally confirmed in the childhood when extra
fingers are discovered in the foot, the symptoms of pygmentary retinitis
subsequent and the obesity. Also is common the extra leather presence between toes. The majority of the individuals have also feet and hands fat and
Obesity may be
present in the childhood between the first and second year of life and before puberty; and normally it is limited to the trunk of the body. Many individuals
are also lower than the average. The reason of the obesity is not known yet
but it seems to be a complex combination of hyperphagia (to eat very much and
in great quantity, without control) and an inadequate use of the expense of
of the individuals with Bardet-Biedl's syndrome experiments decreases on their
intellectual development that range from light hurts to the delay in the
emotional development and mental delay. The degree of mental delay can go from
cognitive decreases moderated to mental severe delay.
The individuals also
can experience renal diseases. The renal abnormalities can affect the
structure and the function of the kidneys and can lead to a severe renal
On having reached the
maturity, the men with Bardet-Biedl's syndrome can have small genital.
Since the size of the sexual feminine organ is more difficult to
evaluate it is not known how many women have this characteristic. The women
with Bardet-Biedl can experiment irregular menstrual cycles.
There is no treatment
for all the characteristics associated with Bardet-Biedl's syndrome.
obesity has to be controlled with a diet plan and education must be done in the
family food habits from an early age.
The polydactylia is
treated in a surgical way.
When the vision
deteriorates, the individuals will benefit with the use of low vision helps and
training in orientation and mobility.
To handle the
complications of the associated renal disease they must be examined by a
nephrologist (doctor specializing in kidney diseases).
They have to have
physical therapy, of rehabilitation and according to the mental retard it will be the required support.
scientific research is focused to locate and to identify the genes that cause
Bardet-Biedl's syndrome. Already there have been traced the genes (locating a
specific region) in the human chromosomes (chromosome 16). This research
is the first step for the development of a way of anticipate or to treat the
characteristics associated with Bardet-Biedl's syndrome.
syndrome, can not be considered as such since in Bardet-Biedl's syndrome does
not exist paraplegia (paralysis) and in Laurence-Moon's syndrome neither the
polydactylia nor the obesity prevails and paralysis does exist. Therefore they
are two different diseases.
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