COACH syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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

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

Genetics

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

Epidemiology and Demographics

Prevalence is unknown.

References

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