A community for individuals
and families living with CHD3

What is Snijders Blok-Campeau Syndrome?

Snijders Blok-Campeau Syndrome is a rare neurodevelopmental disorder caused by mutations in the CHD3 gene, which plays an important role during early brain development. This gene makes a protein that regulates the function of other genes in the developing brain, ensuring that brain cells move into their correct positions at the right time. Even small changes in CHD3 can disrupt that process, resulting in abnormal brain development and a variety of conditions affecting other parts of the body. Common traits include intellectual disability, developmental delays, hypotonia, impaired speech and language, and characteristic facial features.