Joubert syndrome with hepatic defect

What is 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).

Other condition names

  • COACH syndrome
  • Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
  • Gentile syndrome
  • JS-H
  • Joubert syndrome with congenital hepatic fibrosis

Inheritance type

Autosomal recessive


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "". Data version 1.3.16 / 4.1.7.