Joubert syndrome related disorders (JSRD)

A.Prof Frank Gaillard et al.

Joubert syndrome related disorders (JSRD), one of a growing group of related disorders known as ciliopathies, refers to the combination of Joubert syndrome and involvement of the liver, kidneys and/or eyes. Various combinations of these have been given their own syndromes, including 1,2:

Pathology

Unfortunately, the genetics of JSRD are complicated, with mutations involving 10 genes identified, but only accounting for 50% of these patients 1. Additionally, both allelic heterogeneity and locus heterogeneity occur 1

The genes involved are related to the subcellular organelle the primary cilium and basal body 3

Share article

Article information

rID: 29875
Synonyms or Alternate Spellings:
  • Joubert syndrome related disorders
  • JSRD

Support Radiopaedia and see fewer ads

Updating… Please wait.
Loadinganimation

Alert accept

Error Unable to process the form. Check for errors and try again.

Alert accept Thank you for updating your details.