This website provides information on patients with mutations in the RSPRY1 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the RSPRY1 gene is a multisystem disorder characterized by progressive spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability.
Not all individuals with a mutation in the RSPRY1 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 RSPRY1 gene.
Dr. Fowzan Alkuraya, 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, firstname.lastname@example.org
Dr. Maha A. Faden, MD, MBBS, ABP, SBP, FMG, FSD (consultant of Clinical Genetics & Skeletal Dysplasias), Genetic Unit, King Saud Medical City, Riyadh, Saudi Arabia, email@example.com
Fadie D. Altuame, MBBS Candidate, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, firstname.lastname@example.org