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Diseases

Genetic and Rare Diseases Information Center (GARD)

COACH syndrome


Other Names for this Disease
  • Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis
  • Cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis
  • Gentile syndrome
  • Joubert syndrome with congenital hepatic fibrosis
  • Joubert syndrome with hepatic defect
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Your Question

Three siblings were admitted to the hospital because of cirrhosis, mental retardation, and retinal malformations.  Do these individuals have COACH syndrome?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How is COACH syndrome diagnosed?

While there are no official guidelines, a diagnosis of COACH syndrome can be made when an individual is found to have both a particular malformation of the brain called cerebellar vermis hypoplasia (also referred to as the "molar tooth sign" due to the characteristic look of this malformation on brain imaging) and liver disease (specifically fibrosis).[1]
Last updated: 8/1/2012

References
  • Parisi MA. Clinical and molecular features of Joubert syndrome and related disorders. American Journal of Medical Genetics Part C. 2009; 151C:326-340. http://www.ncbi.nlm.nih.gov/pubmed/19876931. Accessed 7/26/2012.
Other Names for this Disease
  • Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis
  • Cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis
  • Gentile syndrome
  • Joubert syndrome with congenital hepatic fibrosis
  • Joubert syndrome with hepatic defect
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.