Joubert Syndrome & Ciliopathies

Joubert Syndrome is also one of a growing group of disorders called ciliopathies.

Defects or dysfunction in the function or structure of cilia are now understood to be the underlying cause of a number of genetic conditions which are called Ciliopathies.

Cilia are slender, microscopic, hair-like structures or organelles that extend from the surface of nearly all mammalian cells.

Dysfunctional and defective motile and non-motile cilia affects multiple systems, causing blindness, deafness, chronic respiratory infections, kidney disease, heart disease, infertility, obesity and diabetes.

Please visit the Ciliopathy Alliance to understand more about the function of cilia and its roll in the development and function of many organs.