Orphanet rare-disease nomenclature id Orphanet_1454 (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). Also known as: COACH syndrome, Cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis, Gentile syndrome, JS-H, Joubert syndrome with congenital hepatic fibrosis.