What is Snijders Blok-Campeau Syndrome?

Snijders Blok-Campeau Syndrome is a rare neurodevelopmental disorder caused by mutations in the CHD3 gene, which has an important role during early brain development. This gene makes a protein that is believed to regulate the function of other genes in the developing brain, all of which work together to ensure 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 creating a variety of conditions that affect other parts of the body. Common traits are intellectual disability, developmental delays, hypotonia, impaired speech and language, and characteristic facial features. Many children have feeding difficulties, and sitting, standing, and walking are often delayed.