About ASXL3/Bainbridge-Ropers Syndrome (BRS)
Overview
About
Bainbridge-Ropers Syndrome is typically caused by a de novo (new) mutation of the ASXL3 gene. The mutation happens randomly and is not usually inherited from parents. Read more about what causes ASXL-related disorders
The syndrome is named after Matthew Bainbridge and H. Hilger Ropers, two doctors who described the similar clinical characteristics of people with a variation on the ASXL3 gene in 2013.
Clinical characteristics
There is significant variability in the severity of symptoms of people who have Bainbridge-Ropers Syndrome and we don’t yet have a good understanding of why that is.
Some of the most common characteristics include:
Intellectual disability of varying severity
Developmental delay of varying severity, including speech delay or absent speech
Behavioral concerns, including features of autism
Feeding difficulties (particularly in infancy), including cyclic vomiting
Low muscle tone (hypotonia)
Seizures
Palate and dental abnormalities
Published symptoms and clinical features
The ARRE Foundation cataloged a list of all the symptoms reported in the medical literature about individuals with ASXL3/Bainbridge-Ropers Syndrome. This map of symptoms across health domains is available in a downloadable PDF and is a helpful document to share with your loved one’s doctors.
It’s important to note that all the symptoms listed here are not present in every individual with Bainbridge-Ropers Syndrome. This is a wide range of symptoms reported across 109 individuals. The intent of this document is to help you and your loved one’s doctors know what signs and symptoms to watch for.
Prevalence
We don’t know how many people have an accurate diagnosis. We estimate that there are approximately 300 people diagnosed in the world. We also believe there are many people living undiagnosed.
Diagnosis
Gene sequencing is required to confirm a diagnosis of Bainbridge-Ropers Syndrome.
Life expectancy
Not enough research has been conducted to know what the average Bainbridge-Ropers Syndrome life expectancy could be. As genetic testing becomes more widely accessible, we are learning of more people who have been living undiagnosed with Bainbridge-Ropers Syndrome for many years. Most of the people we are aware of who have Bainbridge-Ropers Syndrome cannot live independently and require some degree of lifelong care. Bainbridge-Ropers Syndrome is not known to be a degenerative disorder (where function decreases over time).
Experts Stephanie Bielas, PhD (University of Michigan) and Wendy Chung, MD, PhD (Columbia University) provide a research and clinical overview of Bainbridge-Ropers Syndrome for families.
Care management
There are no ASXL-specific therapeutics or treatments to address the underlying cause of Bainbridge-Ropers Syndrome. The treatment approach typically includes the management of any complications through a multidisciplinary team of medical specialists and therapists (speech therapy, physical therapy, occupational therapy, etc.). Interventions may include intensive therapy, surgeries, and medication (i.e. seizure control) as warranted.
Care management resources:
Research
There has been limited research on Bainbridge-Ropers Syndrome and the other two ASXL syndromes (ASXL1/Bohring-Opitz Syndrome and ASXL2/Shashi-Pena Syndrome). It’s our mission to change that. We’re funding research grants and we support the ASXL Patient Registry and Biobank.
The two best things you can do to advance research into Bainbridge-Ropers Syndrome are
Continued reading
The following resources have been approved by our Medical and Scientific Advisors as relevant reading for families looking to learn more about Bainbridge-Ropers Syndrome:
Informational resources
Bainbridge-Ropers Syndrome Awareness Day
February 5
Bainbridge-Ropers Syndrome Awareness Day is February 5. Find facts, sharable graphics, Bainbridge-Ropers Syndrome merchandise and more on our Awareness Days page.
Family support
Parent support group (Facebook page)
Caitlin Calder, a parent of a child with Bainbridge-Ropers Syndrome, created the Bainbridge-Ropers Syndrome and ASXL3 Families support group as a private Facebook page in 2014 with just a handful of members. This grassroots group now has over 1,110 members from around the world.
Other organizations and resources
asxl3.com
This is an informational website run by families with information about Bainbridge-Ropers Syndrome.
Leo’s Lighthouse
Leo’s Lighthouse raises funds for research and hosts a family meetup.
Unique Bainbridge-Ropers Syndrome guide
Unique, an organization that provides information on rare disorders, has a downloadable document about Bainbridge-Ropers Syndrome.
Newly diagnosed
Has someone you love just been diagnosed with an ASXL-related disorder?
