Bardet-Biedl's syndrome

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 Bardet-Biedl's syndrome is a hereditary disease that affects many parts of the body.

 Obesity, the 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 been identified:

 Bardet-Biedl's syndrome 1, which does not have relation with the chromosome 16.

 Bardet-Biedl's syndrome 2, that has relation with the chromosome 16.

 Bardet-Biedl's syndrome 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 broad.

 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 calories.

 Approximately half 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 deterioration.

 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.

 Definitively the 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.


 The continuous 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.

 Laurence-Moon-Biedl-Bardet's 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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Medical supervision by Dr. Arieh Goldberg Kalik.
Bariatric physician, certified medical nutrition specialist. Certificate # 1010084

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