Below is a summary for 15q24 Deletions observed in research publications. This is not meant to take the place of medical advice.
What is 15q24 microdeletion syndrome or Witteveen-Kolk syndrome?
15q24 microdeletion syndrome can affect communication, social, and learning skills. People who have 15q24 microdeletion syndrome may have:
- Developmental delay
- Behavior issues
- Low muscle tone
- Loose joints
15q24 microdeletion syndrome is also known as Witteveen-Kolk syndrome.
What causes 15q24 microdeletion syndrome?
15q24 microdeletion syndrome happens when someone is missing a piece of chromosome 15, 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 15q24 microdeletion syndrome have symptoms?
Not necessarily. Some people do not have any symptoms. Some people may not learn that they have this chromosome change until it is found in their children.
How many people have 15q24 microdeletion syndrome?
As of 2020, doctors have described about 20 people who have 15q24 microdeletion syndrome. The first case was found in 2008. 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 15q24 microdeletion syndrome look different?
People who have 15q24 microdeletion syndrome may look different. Appearance can vary and can include some but not all of these features:
- Changes in finger shape
- High hairline
- Changes in ear shape
- Long and smooth dent above the upper lip
- Skin fold covering the inner corner of the eye
- Eyes that slant downwards
- Sparse eyebrows
- Large distance between the eyes
- Crossed eyes
- Full lower lip
- Small mouth
- Long face
Everyone studied to date that has 15q24 microdeletion syndrome has developmental delay.
More than one-third have behavior issues, including autism, hyperactivity, aggression, and attention deficit hyperactivity disorder, also called ADHD.
Joints and Spine
Almost two-thirds have changes to the skeleton or joints. This can include loose ligaments, which are the tissues that hold together two bones or cartilage, or a curved spine, known as scoliosis.
Research Article Summaries