This website provides information on individuals with variants in the CHD3 gene, including clinical data, molecular data, management and research options.
The syndrome caused by variants in the CHD3 gene, or Snijders Blok-Campeau syndrome (SNIBCPS), is a multisystem disorder causing developmental delay, speech delay and intellectual disability. Most individuals have hypotonia, macrocephaly (a larger head), and a high, broad or prominent forehead. Some individuals also show autistic features, and may have vision problems or joint laxity. Not all individuals with a variant in the CHD3 gene have these features.
This website was created to share and collect information about clinical characteristics, management and research projects to gather more knowledge and hopefully eventually provide better management of individuals with variants in the CHD3 gene.
Philippe Campeau, MD, Principal Investigator, CHU Sainte Justine, Mother and Child University Hospital, Montreal, Canada, firstname.lastname@example.org
Erik van Heesbeen, Post-Doctoral researcher, CHU Sainte Justine, Mother and Child University Hospital, Montreal, Canada, email@example.com