Joubert Syndrome | Print |

Joubert Syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and co-ordination.

The disorder is characterized by agenesis (absence) or hypoplasia (underdeveloped) of the part of the brain called the cerebellar vermis and a malformed brain stem.

The most common features of the disorder include ataxia (lack of muscle control), an abnormal breathing pattern called hypernea, sleep apnea, abnormal eye and tongue movements, and hypotonia.

Other malformations such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur.