Originale
Joubert syndrome is typically diagnosed by recognizing a constellation of brain malformations collectively referred to as the Molar Tooth Sign on a brain MRI. Early indicators could include abnormal breathing, low muscle tone, abnormal eye movements and feeding difficulties. Joubert syndrome also includes risk for Kidney, liver and Retinal involvement requiring annual follow up testing the function of these systems. Therapies are beneficial early on and throughout childhood for developmental delays