Each child with Bohring-Opitz Syndrome is affected differently, but the physical appearance of children with Bohring-Opitz Syndrome is often alike and the clinical phenotype at birth is extremely similar. Not everyone will have all of these certain physical characteristics, but they may include features as described in these “Clinical Feature Cards” with the main features of Bohring-Opitz Syndrome.
29 February 2016 marks the ninth international Rare Disease Day coordinated by EURORDIS. This year the theme is: PATIENT VOICE! Bohring-Opitz Syndrome (BOS) is a rare disease and we want to invite you to learn more about BOS. In February 2016 we presented 29 days, every day, one fact a day about Bohring-Opitz Syndrome.
Please feel free to visit us on Facebook and make the VOICE of children with Bohring-Opitz Syndrome heard.
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.
Here at BOS headquarters and at our support group, we are often asked about the best ways to care for children with BOS. Because every BOS child is unique and we don’t really like the idea of giving out “instructions” but we have written this information document “Living with Bohring-Opitz Syndrome” to provide guidance to newly diagnosed families. This document is based on real-life experiences of BOS families and mainly on the recent article by Bianca Russell and colleagues (2015) and should always be used in conjunction with professional medical advice.
Bohring-Opitz Syndrome has his own infographic!
By following the link https://bohring-opitz.org/bos-infographic/ you can download the infographic also as jpeg and in different languages.
We thank all the parents and friends of the children with Bohring-Opitz syndrome by helping us to make the BOS infographic available in multiple languages!