Bardet Biedl Syndrome Report
Bardet Biedl Syndrome
Bardet Biedl Syndrome is a rare genetic disease belonging to the group of ciliopathies, pathological conditions affecting the ciliary apparatus of cells. Hair cells are found in numerous body districts such as the eyes and kidneys, where they function as sensory receptors or elements of intercellular communication, respectively. In other cases, cilia are required for cell movement. Genetic mutations affecting the eyelashes involve, in Bardet Biedl Syndrome, serious alterations of cellular signaling during development, involving the impairment of sensory functions.
More than 25 genes analyzed
It is recommended if:
This report is recommended for individuals with symptoms of vision loss, obesity, or intellectual disability, as well as those with a family history of Bardet-Biedl Syndrome. It could be particularly suitable for children with typical signs and symptoms of Bardet Biedl Syndrome, such as polydactyly/syndactyly, genitourinary malformations, and nephropathy.
List of main conditions:
- Bardet Biedl Syndrome
- Nephronophthisis
- Senior-Loken Syndrome
Simple workflow
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