COACH syndrome

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).

Last updated on 05-01-20

Name: euro-ATAXIA (European Federation of Hereditary Ataxias) Url:
Name: Joubert Syndrome & Related Disorders Foundation JSRDF 9 Dorenfeld CT
Petaluma, CA, 94952, United States
Phone: +1-614-864-1362 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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