Joubert syndrome is a rare genetic condition that causes underdevelopment in a part of the brain called the cerebellar vermis and malformation of the brainstem. The cerebellar vermis coordinates ...

Joubert syndrome is estimated to affect between 1 in 80,000 and 1 in 100,000 newborns; however, this could be an underestimate, given the broad spectrum of features, particularly those with the ...

New research by Sumeda Nandadasa, PhD, reveals how a key protein associated with Meckel-Gruber syndrome, nephronophthisis, ...

Joubert syndrome is a condition in which many parts of the body can get affected. The symptoms of this syndrome can vary among individuals. However, the most prominent feature of this syndrome is ...

Joubert syndrome is a rare disorder characterized by hyperpnea, a subtle facial appearance, and associated eye abnormalities that are seen in the newborn period. Learn how to detect this condition.

New research by Sumeda Nandadasa, Ph.D., reveals how a key protein associated with Meckel-Gruber syndrome, nephronophthisis, ...

Joubert Syndrome is a rare childhood disease that leads to poor muscle coordination, developmental delay, abnormal eye movements and neonatal breathing abnormalities.

Joubert syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. This text uses material from Wikipedia licensed under CC BY-SA.

At just two years old, Emory Crosdale was diagnosed with joubert syndrome, a rare disease that affects how the brain develops ...

Joubert syndrome is a rare autosomal recessive disorder of the cerebellum that occurs in 1 of 100,000 live births. [3,4,5,6,7,8] It was first described in 1969 by Marie Joubert and colleagues, who ...

The original case of Joubert syndrome was followed for 30 years. At 30 years of age, this man had severe dysarthria, but the hyperpnea and apnea had diminished. His abnormal eye movements were ...