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 Joubert syndrome associated with congenital hepatic fibrosis (CHF).  The age of onset and severity of hepatic manifestations is variable. Some patients may also present chorioretinal or optic nerve colobomas and nephronophthisis (NPH), but these are not mandatory features.
COACH syndrome
Adams-Stokes syndrome
MOMO syndrome
Edwards syndrome
Fat embolism syndrome
Boerhaave syndrome
Systemic inflammatory response syndrome
IMAGE syndrome