Joubert syndrome can encompass a wide range of additional clinical signs and symptoms; therefore, the term “Joubert syndrome and related disorders” has been adopted to describe all disorders ...

Table 2. Follow-up Studies of Infants and Children With Joubert Syndrome [4,5,8,11,31,35,37] Author/Year Type of Study Sample Size Life Span Cognitive Development ...

Nearly all mammalian cells contain cilia – microscopic hair-like structures that extend from the surface of cells. They can be up to 10 micrometers in length and up to 1 micrometer wide. Motile cilia ...

An important link has been found between the intellectual disability experienced by children with the rare disease Joubert Syndrome (JS) and defects in the hippocampus. The hippocampus is the part of ...

Joubert Syndrome is a rare hereditary genetic disease, affecting between 1 in 80,000-100,000 people. The disease leads to the underdevelopment of the cerebellum, a region of the brain which ...

Joubert Syndrome is a rare childhood disease that leads to poor muscle coordination, ... are already known to be responsible for many of the physical symptoms associated with JS.

On June 1, the Joubert Syndrome and Related Disorders Foundation is holding a virtual 5K event called the Race for Rare. The race lets you run it anywhere on your own.

A cilia disease protein causing Joubert Syndrome, ARL-13, is actively trafficked across the base of cilia and molecular diffusion barriers prevent its exit, according to new research. Primary ...

Joubert syndrome is a rare condition, impacting only one in 80,000 births. It affects brain development and causes a range of mental and physical problems. The kidneys of one-third of patients will ...

Joubert M, Eisenring JJ, Robb JP, Andermann F . Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.

Joubert syndrome is characterized by distinctive cerebellar and brain stem malformation called the “molar tooth sign,” hypotonia, ... but they do not show any signs or symptoms of the condition.

(Medical Xpress)—A cilia disease protein causing Joubert Syndrome, ARL-13, is actively trafficked across the base of cilia and molecular diffusion barriers prevent its exit, according to new ...