Bardet-Biedl syndrome (BBS)
What is it?
Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.
Which are the symptoms?
he disease is characterized by the association of obesity, retinitis pigmentosa, postaxial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities, usually presenting several years after disease onset. Clinical expression is variable, although many patients present with almost all signs during the course of the disease. Retinitis pigmentosa is the only consistent sign after childhood. BBS is also associated with other severe signs that include diabetes, hypertension, congenital heart disease, and Hirschsprung's disease.
How is it treated?
There is no curative therapy.
Where do we treat it?
Within the San Donato Group, you can find Bardet-Biedl syndrome (BBS) specialists at these departments:
Are you interested in receiving the treatment?
Contact us and we will take care of you.