29 Facts about BOS

On the occation of Rare Disease Day last year we published 29 #BOSFACTS. A year has past and these facts about Bohring-Opitz Syndrome are still up to date. The Rare Disease Day slogan is this year  ‘With research, possibilities are limitless’. Let’s go for it! #BOSFACT 1   RARE Bohring-Opitz Syndrome is RARE – fewer than…

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Rare Disease Day

Today is the international Rare Disease Day – 28 February 2017. This year it is all about RESEARCH. Research is the key to more knowledge and a better understanding of rare diseases like Bohring-Opitz Syndrome (BOS) with the aim of finding treatments and a cure. BOS is an ultra rare disease with less than 60…

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Best Practice of BOS

Having a child with Bohring-Opitz Syndrome (BOS) is an ongoing learning process and can be challenging at times given the complexity of the illness, especially since there is still little known about the clinical management of children with Bohring-Opitz Syndrome. We, parents and caregivers, are always looking to find the best way to improve the…

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XAN

This video about Xan is just too beautiful not to be shared. It touched me in so many ways. Xan has Bohring-Opitz Syndrome. His mother Danielle brings us in a stirring manner to consciousness how strong and inseparably but also so ethereal and impermanent love, light and life to our children are bound together, yet…

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Phenotypic spectrum of BRS – new study

In this study Dr Meena Balasubramanian present 12 new patients with de novo, heterozygous, loss-of function mutations in ASXL3 and review the to date published literature. Together with the recently published six patients of Kuechler et al. there are now 27 published cases of Bainbridge-Ropers Syndrome (BRS/BRPS).  The patients, identified by the Deciphering Developmental Disorders…

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New images for Face2Gene

We are very excited that families of a child with Bohring-Opitz syndrome (BOS) have submitted until now 150 new images. A while ago we asked parents of the BOS family, united in the Bohring-Opitz syndrome support group, to help Face2Gene by uploading images of their children. Face2Gene is a genetic search and reference tool powered by…

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KULUUT

We are so excited! The new Trailer of KULUUT is promising to be a great documentary. A documentary made by C Amzing Films about a family with an extraordinary child with a rare syndrome, the Bohring-Opitz Syndrome, but most of all about the happiness of the family, even when they experience some difficult times. See…

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