This website provides information on patients with mutations in the CHD4 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the CHD4 gene is a multisystem disorder (Sifrim-Hitz-Weiss syndrome) characterized by developmental delay, mild to moderate intellectual disability, congenital anomalies such as congenital heart defects, brain anomalies and skeletal abnormalities. In addition, some individuals have endocrine abnormalities, hearing loss and ophthalmic abnormalities.
Not all individuals with a mutation in the CHD4 gene have all these features. There is considerable variability between different individuals with the disorder.
This website was created to share and collect information about the clinical features, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the CHD4 gene.
Karin Weiss, MD, Genetics Institute, Rambam Health Care Campus, Haifa, Israel, email@example.com