Below is a summary for the ASXL3 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
What is ASXL3-related syndrome?
ASXL3-related syndrome happens when there are changes to the ASXL3 gene. These changes can keep the gene from working as it should. ASXL3-related syndrome is also known as Bainbridge-Ropers syndrome or BRPS.
The ASXL3 gene plays a key role in development of the brain and the body. It affects parts of the body including the spinal cord, liver, kidneys, and bone marrow.
ASXL3-related syndrome can affect communication, social, and learning skills. The effects can be moderate to severe. Because the ASXL3 gene plays a key role in how cells work, many people who have ASXL3-related syndrome have:
Changes in skull and facial features
Curved spine, also called scoliosis
Do people who have ASXL3-related syndrome look different?
People who have ASXL3-related syndrome often have different facial features. Appearance can vary and can include some but not all of these features:
Wide mouth with full lower lip. High-arched roof of the mouth and crowded teeth.
Eyes that are slanted down. Eyes that are slanted up are less common.
Long nose with wide nasal bridge. Tip of nose is broad and pointed up.
Narrow head shape with wide forehead.
Most people who have ASXL3-related syndrome are on the autism spectrum. Many have sleep problems.
Everyone who has ASXL3-related syndrome has some level of intellectual disability. It can range from moderate to severe, but most cases are severe.
About one-third of people who have ASXL3-related syndrome have seizures. Seizures start very early in some people. For others, seizures can start later in life.
Research Article Summaries