For 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…
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German living in The Netherlands together with my husband and mother of four, writing about the rare disease Bohring-Opitz Syndrome (BOS) of my first born son at bohring-opitz.org and founder of the BOS support group on Facebook.
Do you know that …?
#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 MoreHow Hazel is helping science: Using Face2Gene
Originally 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…
Rare Disease Day Official Video 2016
Get more information about this video on the website of Rare Disease Day!
Read MoreGive 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…
Read More29 Days until #RareDiseaseDay
29 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 MoreDoes a diagnosis change things?
Originally 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…
Growth Charts for children with BOS
Growth in children with Bohring-Opitz Syndrome (BOS) is different from healthy children. Children with BOS are characterized with IUGR (Intrauterine Growth Retardation) and severe feedings problems, as well as failure to thrive. With this in mind, we think it is important to take a different view on the growth of children with BOS. We gave parents and…
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Bohring-Opitz Syndrome/ASXL1 