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Other Names for this Disease
- Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis
- Joubert syndrome with congenital hepatic fibrosis
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Your QuestionThree siblings were admitted to the hospital because of cirrhosis, mental retardation, and retinal malformations. Do these individuals have COACH syndrome?
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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).
Last updated: 8/1/2012
- 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.