Conditions / Syndrome

Coffin-Siris syndrome 8

info ยท Syndrome

A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis

A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13.

Signs and symptoms

  • Intellectual disability
  • Global developmental delay
  • Hypotonia
  • Delayed speech and language development
  • Sleep disturbance
  • Aggressive behavior
  • Hyperactivity
  • Self-injurious behavior
  • Feeding difficulties
  • Poor suck

Also known as: CSS8