We, the Bohring-Opitz Syndrome Support Group, are supporting the FDNA (Facial Dysmorphology Novel Analysis) project ‘Face2Gene’.
Bohring-Opitz Syndrome (BOS), which has with less than 60 children recognized in medical history, is a very rare genetic disorder and knowledge of BOS is still in its early stages. By supporting the groundbreaking Face2Gene project we want to be at the forefront of medical technology and help ensure early and accurate diagnosis.
Many genetic syndromes are associated with the patient’s appearance or gradual development of distinctive physical characteristics. We as parents, along with scientists, agree that children with BOS greatly resemble each other with their distinctive facial features. These characteristics make Bohring-Opitz Syndrome ideal to include in the Face2Gene project.
Face2Gene, when used in conjunction with a clinical diagnosis, could be a useful addition to molecular studies, such as whole exome sequencing and could be an important contribution to the further phenotypic delineation of Bohring-Opitz Syndrome.