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Updated Screening Guidelines

A new publication was recently published by Patel et al. 2024 on two children with Bohring-Opitz Syndrome, who are diagnosed with liver cancer. These two, together with a previously known case, are now three individuals diagnosed with hepatoblastoma described in the medical literature. Hepatoblastoma is a very rare malignant liver cancer occurring in infants and children and can spread to other…

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Interactive Visual Aid

Interactive Visual Aid on symptoms, concerns, and treatment options for ASXL1/Bohring-Opitz Syndrome.

It’s Bohring-Opitz Syndrome Awareness Day! This year we present Your Interactive Visual Aid (IVA) on the most common symptoms of Bohring-Opitz Syndrome (BOS), which have been described in the medical literature and case studies in recent years between 2006 – 2023. We also highlight treatment options noted in the important “Bohring-Opitz Syndrome” research. Although children with Bohring-Opitz…

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Of course #BOSaware

On April 6th we celebrate Bohring-Opitz Awareness Day! Interactive Visual Aid This year we present this new Interactive Visual Aid on the most common symptoms of Bohring-Opitz Syndrome (BOS), which have been described in the medical literature and case studies in recent years between 2006 – 2023. We also highlight treatment options noted in the important “Bohring-Opitz syndrome”…

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REACH on RDD'24

This special month there is a new update to the ASXL registry and we would like to share it on this unique day of Rare Disease Day the 29th! This registry was created to gather information about Bohring-Opitz syndrome and ASXL related disorders to provide a better understanding of these rare conditions for patients, caregivers and medical professionals. This newsletter reported the number of…

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BOS Puberty Study

Last recruitment call for the BOS EEG Study. We are looking for 5 more people! Are your loved one the one to be part of this special study for Bohring-Opitz Syndrome? Our BOS family is strong because we learn from each other! We are grateful for the research opportunities focused on improving the lives of our children. Please consider taking the BOS Puberty Survey! How can you…

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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 the last ASXL conference, a…

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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,…

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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. This study will be conducted through the ASXL Registry at UCLA and will…

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11 years ago in 2011

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 about Bohring-Opitz Syndrome to improve the lives of children and…

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Rare Disease Day 2022

Rare Disease Day 2022

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Hola, amigos, fundación BOS de España

Hola, amigos, fundación BOS de España

Source: asalbo.com How amazing is that! The first foundation in Europe committed to advancing scientific research and to helping other families with Bohring-Opitz Syndrome. The initiators are Amaia’s parents, Juanfra López and Rosario Ruíz. Read more about their foundation and how you can help here: English below. ASALBO es fundada en marzo de 2021 gracias a la iniciativa de los padres de…

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2021 ASXL Family Conference - video

2021 ASXL Family Conference – video

Presenters: Bianca Russell, MD (University of California Los Angeles) and Wen-Hann Tan, BMBS (Boston Children’s Hospital) Experts Bianca Russell, MD (University of California Los Angeles) and Wen-Hann Tan, BMBS (Boston Children’s Hospital) provide a research and clinical overview of Bohring-Opitz Syndrome for families. This session is part of the virtual 2021 ASXL Family Conference hosted by the…

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"We really aren't different"

“We really aren’t different”

This episode of The Mental Health and Developmental Disabilities (MHDD) National Training Center features Campbell, a girl from Kentucky living with Bohring-Opitz syndrome. Michelle is her mother and caretaker and believes her time as an Occupational Therapist was what truly prepared her for the task of raising Campbell. The Mental Health and Developmental Disabilities (MHDD) National Training…

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Retinal detachment to chronic self-injurious behavior

Retinal detachment to chronic self-injurious behavior

Abstract A 9-year-old female with a history of Bohring-Opitz syndrome (BOS), Down syndrome, and autism initially presented with bilateral cataracts and a total retinal detachment in her left eye secondary to chronic self-injurious behavior. The authors report the first case of self-induced retinal detachment and traumatic cataracts in a patient with BOS. For patients who present with…

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Elaney's Story

Elaney’s Story

Elaney’s Story with Bohring-Opitz Syndrome, written by her mother when she first became acquainted with the BOS Support group 10 years ago. “Elaney’s life has been a long and winding road with many ups and downs, twists and turns.” A number of things have changed in that time, but with a view of today there is one that remains: “Now age 19, she is much the same as she has always been; forever our…

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10 Years BOS Timeline

10 Years BOS Timeline

2011 – 2021 April 6th – 10 years Bohring-Opitz Syndrome Support Group – A Timeline The Bohring-Opitz Syndrome Support Group will be marking its 10th anniversary this April. We want to show our appreciation for the support we have received through the past 10 years. April 6th, we will celebrate the families who are part of the Bohring-Opitz Syndrome Support Group. We will do this by sharing our…

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RARE Publications

Today is Rare Disease Day. Today is 28 February, Rare Disease Day!  The rarest day of the year, dedicated to raising awareness for people living with a rare disease.  Bohring-Opitz Syndrome (BOS) is a ultra-rare condition with only a few handful of cases worldwide. Prior to 2011 the diagnosis relied mainly on recognizing the distinguishable physical characteristics in the appearance of the…