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 ...

A life-threatening kidney disease may be one day be a treatable condition thanks to work by researchers at Newcastle University, and patients with the illness - Joubert syndrome. For the first time, ...

Joubert Syndrome is a rare, autosomal recessive disorder that affects the cerebellum and brain stem. It presents with a distinct respiratory pattern and profound tachypnea in the newborn period. This ...

Joubert Syndrome is a condition that affects brain development and manifests itself through delayed psychomotor development, abnormal coordination of eye movements and respiratory abnormalities. Since ...

Four-year-old Oliver McDonald can be sensitive to loud sounds and has trouble getting around. His parents got him a Power Wheels car for him to use this summer, but his little sister likes it better, ...

Researchers in Ireland have gained new understanding of the role played by the cilial protein Arl13b in Joubert syndrome (JS), a rare disorder characterized by developmental delay, mental retardation, ...

An important link has been found between the intellectual disability seen in children with Joubert Syndrome and defects in a specific part of the brain. An important link has been found between the ...

The male patient originates from consanguineous Persian parents and has two healthy younger sisters. Father and mother are first-degree cousins. In the extended family no other affected members are ...

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 ...

Classic Joubert syndrome is characterized by distinctive cerebellar and brain stem malformation called the “molar tooth sign,” hypotonia, and developmental delays. The designation “Joubert syndrome ...

The striking hyperpnea in infants with Joubert syndrome sets it apart from other conditions and often leads to a misdiagnosis of TTNB. Any infant in the newborn period who exhibits excessive ...