Coffin-Siris syndrome: Clinical description of two cases

Coffin-Siris syndrome is a rare disorder, which can be difficult to recognize. A broad spectrum of nonspecific clinical features is associated with Coffin-Siris syndrome, and the expression of these features is diverse. We describe two cases with Coffin-Siris syndrome with mutations in the ARID1A gene, with dissimilar presentation and clinical course.

Automated summary

Coffin-Siris syndrome is a rare and difficult-to-recognize disorder, with a broad range of nonspecific clinical features associated with it.