To summarize, non-truncating mutations in SMARCB1 cause a severe CSS-like phenotype with a recognizable facial gestalt that includes hypertelorism, thick eyebrows, a depressed and broad nasal bridge and anteverted nares, and a large mouth with macroglossia and progressive coarseness of the face, as well as sparse scalp hair and hypertrichosis. This evidence concerns the gene SMARCB1 and Coffin-Siris syndrome.