GTR Home > Conditions/Phenotypes > COACH syndrome


COACH syndrome is an autosomal recessive disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Other features, such as coloboma and renal cysts, may be variable. COACH syndrome is considered by some to be a subtype of Joubert syndrome (JBTS; 213300) with congenital hepatic fibrosis. Identification of liver disease in these patients is critical because some may develop complications such as portal hypertension with fatal variceal bleeding (Brancati et al., 2008; Doherty et al., 2010). [from OMIM]

Available tests

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Associated genes

Clinical features

  • Apnea
  • Splenomegaly
  • Strabismus
  • Visual impairment
  • Hyperreflexia
  • Round face
  • Long face
  • Prominent nasal bridge
  • Narrow forehead
  • Gait disturbance
  • Anteverted nares
  • Cognitive impairment
  • Low-set, posteriorly rotated ears
  • Incoordination
  • Molar tooth sign on MRI
  • Cerebellar vermis hypoplasia
  • Seizures
  • Hydrocephalus
  • Nystagmus
  • Macrocephaly
  • Tremor
  • Feeding difficulties in infancy
  • Multicystic kidney dysplasia
  • Renal insufficiency
  • Nephronophthisis
  • Nephropathy
  • Wide mouth
  • Abnormality of the oral cavity
  • Oral cleft
  • Hypertelorism
  • Ptosis
  • Chorioretinal coloboma
  • Optic nerve coloboma
  • Coloboma
  • Iris coloboma
  • Oculomotor apraxia
  • Abnormality of the hypothalamus-pituitary axis
  • Biliary tract abnormality
  • Postaxial hand polydactyly
  • Ataxia
  • Muscular hypotonia
  • Spasticity
  • Global developmental delay
  • Cirrhosis
  • Hepatic fibrosis
  • Portal hypertension
  • Growth delay
  • Encephalocele
  • Occipital encephalocele
  • Hepatomegaly
  • Abnormality of neuronal migration
  • Intellectual disability, moderate
  • Highly arched eyebrow
  • Congenital hepatic fibrosis
  • Scoliosis
  • Neoplasm of the liver
  • Elevated hepatic transaminases
  • Hernia of the abdominal wall
  • Aplasia/Hypoplasia of the cerebellum
  • Aplasia/Hypoplasia of the corpus callosum
  • Multiple small medullary renal cysts
  • Chronic hepatic failure
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