Diagnosis of Coffin-Siris syndrome is largely based upon the presence or absence of common signs and symptoms in the individual. While formal diagnostic criteria have not been established, most individuals with a clinical diagnosis of Coffin-Siris syndrome have certain features in common. You can find detailed information on this topic at the following link to GeneReviews. http://www. ncbi. nlm. nih. gov/books/NBK131811/coffin-siris. Diagnosis Genetic testing may also be used to diagnose or confirm cases of Coffin-Siris syndrome. 
How to diagnose Coffin-Siris syndrome ?