Below is a summary for 6q16 Deletions observed in research publications. This is not meant to take the place of medical advice.
What is 6q16 deletion syndrome?
6q16 deletion syndrome can affect communication, social, and learning skills. People who have 6q16 deletion syndrome may have:
- Developmental delay
- Learning difficulties
- Behavior issues, including hyperactivity and features of autism
- Excessive hunger and obesity that begins early in life
- Low muscle tone
- Changes in appearance
What causes 6q16 deletion syndrome?
6q16 deletion syndrome happens when someone is missing a piece of chromosome 6, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes.
Some people inherit a genetic change from a parent. In other people, small mistakes can occur when genes are being copied. Parts of the chromosomes can break off, make extra copies, or end up in a different order than expected. When this happens, it is called a “de novo”, or new, change. The child can be the first in the family to have the genetic change.
Do all people with 6q16 deletion syndrome have symptoms?
Not necessarily. Some people do not have any symptoms. Some people may not learn that they have this genetic change until it is found in their children.
How many people have 6q16 deletion syndrome?
As of 2020, doctors had found about 30 people who have 6q16 deletion syndrome. There are likely many more undiagnosed people who have the syndrome. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Do people with 6q16 deletion syndrome look different?
People who have 6q16 deletion syndrome may look different. Appearance can vary and can include some but not all of these features:
- Round face and full cheeks
- Large head, also known as macrocephaly
- Wide head with a flat back, also called brachycephaly
- Protruding forehead
- Large space between the nose and the upper lip
- Fat, round, or bulging nose
Most people who have the syndrome have developmental delay and learning difficulties and need special educational support. One study of 30 people found that 97 percent have developmental delay and 97 percent have learning difficulties.
About 60 percent of people who have the syndrome have behavior issues, including features of autism or attention deficit hyperactivity disorder. This can range from repetitive movements and hyperactivity to tantrums and aggressive behavior. Some people have sleep problems.
Eyes and Eyesight
Eye issues are common. These can include nearsightedness or crossed eyes, also called strabismus.
Learn more about 6q16 deletion syndrome and connect with other Simons Searchlight families with the resources below:
Research Article Summaries