Snijders Blok-Campeau Syndrome

• Intellectual disability, speech problems and distinctive facial features

From Reference (1)

• Hypertelorism common
• Strabismus 30%
• CVI 9%

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

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

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