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:
- Varadi-Papp syndrome (same as oral-facial-digital syndrome type VI)
- Dekaban-Arima syndrome
- COACH syndrome
- Senior-Loken syndrome
- Joubert polymicrogyria syndrome
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.