Joubert syndrome related disorders (JSRD)

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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 :

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 . Additionally, both allelic heterogeneity and locus heterogeneity occur .

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