Joubert Syndrome With Hepatic Defect

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

Epidemiology

Prevalence is unknown.

Clinical description

The age of onset and severity of hepatic manifestations are variable. Some patients may also present chorioretinal or optic nerve colobomas and nephronophthisis (NPH), but these are not mandatory features.

Etiology

Over 70% of cases are due to mutations in the TMEM67 gene (8q22.1).

Genetic counseling

Transmission is autosomal recessive.