Bardet-Biedl Syndrome


Is there a treatment for Bardet-Biedl Syndrome?

There is currently no treatment for the mutations causing Bardet-Biedl syndrome; current treatment plans for Bardet-Biedl syndrome address its symptoms.

Due to the progressive vision loss, visual aids and educational programs specific to people with visual impairments are recommended.

For obesity, diet and exercise are recommended; medication used for the general population may also be used if hypertension or diabetes mellitus is a concern.

If the person with Bardet-Biedl syndrome has behavioral problems, behavioral therapies for them and their parents may be recommended. Behavioral therapies may also assist with obesity.

Early interventions and special education may benefit the child in the long run, especially to prepare for the loss of vision. Additionally, speech therapy will help those with delayed and impaired speech.

Surgery may be possible to correct genital or urinary malformations and for the extra fingers and/or toes.

Hormone replacement may help males with hypogonadism (small testes).

While infertility is a problem for many with Bardet-Biedl syndrome, it is not universal; contraceptives should still be discussed for those affected and interested in sexual relationships.

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Are there other organ or symptom specific treatments for Bardet-Biedl Syndrome?

Are there other organ or symptom specific treatments for Bardet-Biedl Syndrome?

No current treatment delays or prevents the progressive vision loss characteristic of Bardet-Biedl syndrome. Kidney dysfunction and malformations should be treated for their specific problems; a kidney transplant may be required, something the patient’s doctor should evaluate and recommend when appropriate. Cardiac abnormalities in a person with Bardet-Biedl syndrome can be treated as they would in a member of the general population. People with Bardet-Biedl syndrome should avoid also substances that are contraindicated (not recommended) for those with kidney impairment.


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