Providing information about Bohring-Opitz Syndrome and awareness through a worldwide exchange with guidance and parental support.
This awareness and advocacy page has been created by parents of children with Bohring-Opitz Syndrome who belong to the international private Facebook Group, called “Bohring-Opitz Syndrome support group”, that was started April 6th 2011. We now bring our knowledge and experience as parents and caregivers of BOS children forward in hopes to provide the most current resources available to new families of children with this disease.
Bohring-Opitz Parent Support Group
Bohring-Opitz Syndrome/ASXL1
Community
The various goals of this website are to:
- To connect families of children with Bohring-Opitz Syndrome
- Provide and exchange numerous types of information among parents and caregivers,
- To increase international awareness of Bohring-Opitz Syndrome,
- To extend knowledge and informational resources to medical professionals who treat children with Bohring-Opitz, and
- To encourage and promote continued research in order to improve the quality of life of our children.
Latest Posts
Newsletter ASXL Registry
A new update from the ASXL registry is given this month! This registry has been created to collect information about Bohring-Opitz Syndrome and ASXL related disorders in order to achieve a better understanding of these rare conditions for patients, caregivers and medical professionals. In this newsletter, the actual numbers of registered individuals were displayed. At…
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Long awaited BOS publication
The long-awaited sequel to the latest publication by Bianca Russell and her team has been released: “Clinical findings in 39 individuals with Bohring–Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk.” This follow-up to the publications in 2015 (Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing…
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ASXL Puberty Survey
COMING SOON: PUBERTY SURVEY FOR ALL ASXL FAMILIES! Dr. Bianca Russell, a pediatric geneticist from UCLA, reached out to let us know about a new Puberty Survey for all ASXL families that will be launched soon. The UCLA ASXL Registry team is currently working on a new survey regarding puberty in children with ASXL conditions.…
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11 years ago in 2011
It’s Bohring-Opitz Syndrome Awareness Day! This day was chosen because that’s the day that the Bohring-Opitz Syndrome support group was created on Facebook, on April 6th 2011! 11 years ago! This group has helped so many families to connect all over the world! With this awareness day we want to encourages people to learn more…
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Bohring-Opitz Syndrome 