Joubert syndrome related disorders (JSRD)

Last revised by Ammar Ashraf on 14 Mar 2023

Citation, DOI, disclosures and article data

Citation:

Gaillard F, Ashraf A, Almoghazy S, et al. Joubert syndrome related disorders (JSRD). Reference article, Radiopaedia.org (Accessed on 18 Apr 2024) https://doi.org/10.53347/rID-29875

DOI:

https://doi.org/10.53347/rID-29875

Permalink:

https://radiopaedia.org/articles/29875

rID:

29875

Article created:

29 Jun 2014, Frank Gaillard ◉ ◈

Disclosures:

At the time the article was created Frank Gaillard had no recorded disclosures.

View Frank Gaillard's current disclosures

Last revised:

14 Mar 2023, Ammar Ashraf ◉

Disclosures:

At the time the article was last revised Ammar Ashraf had no financial relationships to ineligible companies to disclose.

View Ammar Ashraf's current disclosures

Revisions:

4 times, by 4 contributors - see full revision history and disclosures

Systems:

Central Nervous System

Synonyms:

Joubert syndrome related disorders
JSRD

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.