We are very excited that families of a child with Bohring-Opitz syndrome (BOS) have submitted until now 150 new images. A while ago we asked parents of the BOS family, united in the Bohring-Opitz syndrome support group, to help Face2Gene by uploading images of their children.
Face2Gene is a genetic search and reference tool powered by FDNA® (Facial Dysmorphology Novel Analysis) technology. 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.
This is a tremendous success and we want to thank all the parents who helped Face2Gene to train the technology to become more accurate for the benefit of all geneticists and their patients.