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 cerebellarvermishypoplasia (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
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please
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.