Below is a summary for 2q37 Deletions observed in research publications. This is not meant to take the place of medical advice.
What is 2q37 deletion syndrome?
2q37 deletion syndrome can affect communication, social, and learning skills. People who have 2q37 deletion syndrome may have:
- Developmental delay
- Language delay
- Autism or features of autism, including repetitive behavior, delayed social skills, and poor eye contact
- Other behavior issues, including hyperactivity and aggressive behavior
- Low muscle tone, also known as hypotonia
- Changes in facial features
- Short third, fourth, and fifth fingers
What causes 2q37 deletion syndrome?
2q37 deletion syndrome happens when someone is missing a piece of chromosome 2, 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 2q37 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 2q37 deletion syndrome?
As of 2020, doctors had found more than 100 people who have 2q37 deletion syndrome. The first case was found in 1995. 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 2q37 deletion syndrome look different?
People who have 2q37 deletion syndrome may look different. Appearance can vary and can include some but not all of these features:
- Broad, round face
- Thin upper lip
- Protruding forehead
- Arched eyebrows
- Short height
- Short third, fourth, and fifth fingers, also known as brachydactyly type E
Nearly one-third of people have autism or features of autism. Some have hyperactivity or aggressive behavior.
More than three-quarters of people who have the syndrome have mild to moderate developmental delay and may require special educational support.
About one-sixth have seizures.
Learn more about 2q37 deletion syndrome and connect with other Simons Searchlight families with the resources below:
Research Article Summaries