All about “What is Bohring-Opitz Syndrome/ASXL1 (BOS Syndrome)?”
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Join this welcoming, safe, and friendly place and be able to participate and receive important treatment information. We, parents and caregivers from 60 countries, might not know all the answers, as you, we are always looking to find the best way to improve the life of our child with Bohring-Opitz Syndrome (BOS). But – together we are not…
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ASXL Natural History Study This registry, formerly called the ASXL Chromatin Disorders Registry/ASXL 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. A well run registry helps produce scientific literature and leads to…
Read MoreGive a HIGH FIVE for BOHRING-OPITZ SYNDROME! We are excited to celebrate that the first Bohring-Opitz Syndrome (BOS) SUPPORT GROUP will be five years old on APRIL 6th, the international Bohring-Opitz Syndrome AWARENESS DAY! This initiative is creating a worldwide virtual high five chain in support of children with Bohring-Opitz Syndrome and their families…
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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…
Read MoreFor patients, caregivers and medical professionals there is still inadequate knowledge and resources about causes, symptoms, quality of life and treatments for Bohring-Opitz Syndrome (BOS). A patient registry (PR) for collecting information about this rare condition is an opportunity to increase the knowledge about Bohring-Opitz Syndrome. The BOS Foundation has started to work together with…
Read More#BOSFACT – 29 facts about Bohring-Opitz Syndrome from Bohring Opitz on Vimeo. 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,…
Read MoreOriginally posted on Tiny and Fierce: Living with Bohring-Opitz Syndrome:
Hazel – Newborn After we received our diagnosis of a rare disorder called Bohring-Opitz Syndrome, I wanted to know how we could help others receive an accurate diagnosis faster and more easily than we did. A few months before Hazel’s diagnosis, I learned about a…
Get more information about this video on the website of Rare Disease Day!
Read MoreWe, 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…
Read More29 February 2016 marks the ninth international Rare Disease Day coordinated by EURORDIS. This year the theme is Patient Voice – Join us in making the voice of rare diseases heard. Bohring-Opitz Syndrome (BOS) is a rare disease and we want to invite you to learn more about BOS, so please feel free to visit our Facebook…
Read MoreOriginally posted on Tiny and Fierce: Living with Bohring-Opitz Syndrome:
My daughter was diagnosed with Bohring-Opitz Syndrome (BOS) on May 9, 2015. She was 20 months old at that time. We knew about a week in advance that whole exome sequencing showed a mutation, and the genetic counselor wanted us to come in at the…
Bohring-Opitz Syndrome/ASXL1 