Coffin-Siris Syndrome Presents with Novel ARID-2 Gene Mutation

Abstract

Coffin-Siris Syndrome (CSS) is a rare genetic condition most commonly associated with ARID1A, ARID1B, ARID 2, SMARCA4, SMARCB1, DPF2, and SMARCE1 genetic mutations. The most common features of CSS are intellectual disabilities and facial abnormalities. We report a case of a 10-month-old infant who presented with craniosynostosis and developmental delays. Clinical improvement was observed after conservative therapy. This paper discusses the BAF gene family and how mutations in this gene family influence the development of children. The prognosis of CSS has also been discussed.