This website provides information on patients with mutations in the GZF1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the GZF1 gene is a multisystem disorder characterized by the dislocation or generalized laxity of joints, severe myopia, and other less consistent clinical features, including hearing loss, scoliosis, and short stature. Not all individuals with a mutation in the GZF1 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the GZF1 gene.

Fowzan S. Alkuraya, MD (Hons) ABP ABMG (Clinical Genetics and Clinical Molecular Genetics), Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia / Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, falkuraya@kfshrc.edu.sa

Nisha Patel, PhD, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, npatel@kfshrc.edu.sa

Fadie D. Altuame, MBBS Candidate, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, faltuame@alfaisale.edu