Joubert syndrome
Joubert syndrome
Definition
Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
Also known as cerebelloparenchymal disorder IV, classic Joubert syndrome, CPD IV, Joubert syndrome, Joubert syndrome type A, Joubert-Boltshauser syndrome, pure Joubert syndrome — per MONDO