This website provides information on patients with mutations in the CHST3 gene, including clinical data, molecular data, management and research options.
The spondyloepiphyseal dysplasia (SED) with congenital joint dislocations, also described as spondyloepiphyseal dysplasia, Omani type is caused by mutations in the CHST3 gene is a skeletal dysplasia characterized by short stature, platyspondyly, multiple joint dislocations, early onset osteoarthritis, scoliosis and sometimes cardiac defects, mainly valvular. Occasional families with SED with hearing defects are described.
Though the skeletal features are consistent and mostly characteristic, not all individuals with a mutation in the CHST3 gene have come of the features like cardiac involvement, brachydactyly, etc.
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 CHST3 gene.
Dr Shubha R Phadke, MD, DM, Professor, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India, firstname.lastname@example.org
Dr Somya Srivastava, MS, Senior Resident, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Lucknow, India, email@example.com