Joubert syndrome is a condition that affects the development of the brain. This condition can also impact many other parts of the body. The signs and symptoms seen in people with Joubert syndrome can vary, even among members of the same family.

Joubert syndrome can be caused by variants (also called mutations) in one of more than 40 genes. The proteins produced from most of these genes are known or suspected to be involved with cell structures called primary cilia. Primary cilia are microscopic, finger-like projections that stick out from the surface of cells. They are part of signaling pathways that transmit information between cells. Primary cilia are important for the structure and function of many types of cells, including brain cells and certain cells in the kidneys and liver.

Joubert syndrome is estimated to affect between 1 in 80,000 and 100,000 newborns. However, this estimate may be low because some affected individuals likely do not receive a diagnosis.

Joubert syndrome can have different inheritance patterns depending on its genetic cause.

Published Date: February 25, 2026
Published By: National Institutes of Health