This website provides information on patients with mutations in the ADGRG6 gene, including clinical data, molecular data, management and research options.
Bi-allelic variants in ADGRG6 cause a lethal congenital contracture syndrome (LCCS9). This condition is characterised by onset in utero – with affected fetuses presenting with reduced fetal movements (fetal akinesia) and multiple contractures of the major joints. Ultrasound scans as early as 18 weeks gestation detected reduced fetal movements and contractures. Other features included in utero growth restriction, pterygia, micrognathia, rockerbottom feet, talipes.
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 ADGRG6 gene.
Gina Ravenscroft, Senior Research Fellow, University of Western Australia, Perth, Australia, firstname.lastname@example.org