Joubert syndrome: Molecular basis and treatment

J Mother Child. 2023 Feb 22;26(1):118-123. doi: 10.34763/jmotherandchild.20222601.d-22-00034. eCollection 2022 Mar 1.


Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a distinctive malformation of the cerebellum and the so-called "molar tooth sign." Other characteristic features are hypotonia with lateral ataxia, intellectual disability/mental retardation, oculomotor apraxia, retinal dystrophy, abnormalities in the respiratory system, renal cysts, hepatic fibrosis, and skeletal changes. Such pleiotropic characteristics are typical of many disorders involving primary cilium aberrations, providing a significant overlap between JS and other ciliopathies such as nephronophthisis, Meckel syndrome, and Bardet-Biedl syndrome. This review will describe some characteristics of JS associated with changes in 35 genes, and will also address subtypes of JS, clinical diagnosis, and the future of therapeutic developments.

Keywords: Joubert syndrome (JS); ciliopathies; clinical and molecular diagnosis; therapeutic options.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple* / diagnosis
  • Abnormalities, Multiple* / genetics
  • Abnormalities, Multiple* / therapy
  • Cerebellum / abnormalities
  • Eye Abnormalities* / diagnosis
  • Eye Abnormalities* / genetics
  • Eye Abnormalities* / therapy
  • Humans
  • Intellectual Disability* / diagnosis
  • Intellectual Disability* / genetics
  • Intellectual Disability* / therapy
  • Polycystic Kidney Diseases*
  • Retina / abnormalities

Supplementary concepts

  • Agenesis of Cerebellar Vermis

Grants and funding

The authors declare no funding support