Joubert syndrome [34 genes]

Joubert syndrome (JS) is a congenital cerebellar ataxia characterized by an unusual malformation of the midbrain (molar tooth sign) and a variable involvement of other organs. In 20-30% of cases, patients can develop nephronophthisis with kidney failure and renal cysts. Its inheritance pattern can be autosomal recessive or X-linked.
Pathogenic variants associated with this syndrome affect genes that encode primary cilia proteins, which play a major role during embryonic development. It shows high phenotypic variability and genetic heterogeneity.

Incidence: 1/80,000

Identifying genetic variants causing Joubert syndrome allows for a precise molecular diagnosis that provides the information necessary to perform genetic counseling, direct patient management, and offers predictive value to carrier patients.

The identification of genetic variants causing Joubert syndrome allows for a precise molecular diagnosis that provides the information necessary to perform genetic counseling, direct patient management, and offers predictive value to carrier patients.

• Hypertonia
• Abnormal eye movements
• Occasional changes in breathing pattern
• Polydactyly in 10-15%
• Facial dysmorphism
• Nephronophthisis or cystic dysplasia of the kidney
• Retinal defects
• Polydactyly