The BOS Registry

BOS registry 10

Our best chance to help individuals who are affected by Bohring-Opitz Syndrome (BOS) is a registry that will collect important information about raising a child with BOS and their medical history and build a resource for a better understanding of this rare disease for patients, caregivers as well for medical professionals.

The amount knowledge started small, with just four patients presented by Axel Bohring in 1999. Over the years, more and more cases were presented and our BOS Family is still growing.

The BOS & ASXL REGISTRY is here! We need your help in building such a resource and encourage you to become part of the “Bohring-Opitz Syndrome (BOS) & ASXL related Registry”. This registry, created by Dr. Bianca Russell and Dr. Wen-Hann Tan, is a milestone in the history of Bohring-Opitz Syndrome and the more people registered, the more valid and valuable the information becomes, which will result in a significant step in improving the lives of people affected with Bohring-Opitz Syndrome.

»Learn more about the registry!

Thank you for considering having your child or BOS-Angel join the registry. Your participation makes the difference!

 

Give a Face to a Syndrome

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.

» Read more about how we support Face2Gene