Snijders Blok-Campeau Syndrome

Main Features

  • Intellectual disability, speech problems and distinctive facial features

From Reference (1)

Eye Findings

  • Hypertelorism common
  • Strabismus 30%
  • CVI 9%

Other Findings

  • Macrocephaly
  • Craniosynostosis
  • Atrial Septal Defect
  • Enlarged CSF spaces

Etiology

  • Mutations in the CHD3 gene which encodes for a protein that regulates gene activity through chromatin remodeling.

References

  1. Snijders Blok et al. CHD3 helicase domain mutations cause a neurodevelopment syndrome with macrocephaly and impaired speech and language. Nature Communications 2018;9:4619
  2. Medline Plus entry