Juvenile Nephronophthisis | Print |

Juvenile nephronophthisis with cerebellar malformation - refers to a disorder in which there is a particular form of renal insufficiency.

In some individuals, juvenile nephronophthisis can occur as part of a group of genetic conditions that result from an abnormality in the part of the brain called the cerebellar vermis. The disorders that share this cerebellar malformation are known as Joubert syndrome and related disorders (JSRD). These conditions have some characteristics in common, but there is a spectrum of symptoms and abilities in affected individuals.

For additional information regarding this family of conditions, please refer to the Joubert Syndrome Foundation & Related Cerebellar Disorders website. Click here for more information.