Rehabilitation in a rare case of coffin-siris syndrome with major cognitive and behavioural disorders.

Background: Coffin-Siris syndrome is a rare genetic disease with heterozygous variants in the ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCE1 or SOX11 genes. It may manifest with somatic anomalies, deafness, urogenital malformations, recurrent infections, mental retardation, speech deficit, agenesis of the corpus callosum, convulsions, hypotonia, developmental delay, and scoliosis.

Case Report: A 14-year-old boy with Coffin-Siris syndrome due to variants in the ARID1A gene was referred to the clinic.