Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
COACH syndrome
Introduction
Synonyms and keywords: Joubert syndrome with hepatic defect; cerebellar vermis hypoplasia – oligophrenia – congenital ataxia – coloboma – hepatic fibrosis; gentile syndrome; Joubert syndrome with congenital hepatic fibrosis.
Overview
Overview
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.
Pathophysiology
Pathophysiology
Genetics
Over 70% of cases are due to mutations in the TMEM67 gene (8q22.1). Transmission is autosomal recessive.
Epidemiology and Demographics
Epidemiology and Demographics
Prevalence is unknown.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]