Below is a summary for 2q37.3 deletion syndrome observed in research publications. This is not meant to take the place of medical advice.
What is 2q37.3 deletion syndrome?
2q37.3 deletion syndrome happens when a person is missing a piece of chromosome 2, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes. The missing piece can affect learning and how the body develops.
Because the 2q37.3 region is important for the proper function of the body’s cells, some people may have:
- Developmental delay
- Intellectual disability
- Sleep disturbance
- Self-injury behavior
- Attention deficit hyperactivity disorder, also called ADHD
- Low muscle tone
- Heart issues
- Gastrointestinal problems
- Recurrent ear infections
- Breathing issues
Do people who have 2q37.3 deletion syndrome look different?
People with 2q37.3 deletion syndrome may look different. Appearance can vary and can include some but not all of these features:
- Shorter than average height
- Bones of the hands or feet that are shorter than average
- Round face
- Wide face
- Deep-set eyes
- Sparse or thin hair
How many people have 2q37.3 deletion syndrome?
As of 2022, at least 115 people with 2q37.3 deletion syndrome have been described in medical research.
Research Article Summaries