Below is a summary for 17p13.3 deletion syndrome observed in research publications. This is not meant to take the place of medical advice.
What is 17p13.3 deletion syndrome?
17p13.3 deletion syndrome happens when a person is missing a piece of chromosome 17, 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.
17p13.3 deletion syndrome is also called Miller-Dieker lissencephaly syndrome.
Because the 17p13.3 region is important for the proper function of the body’s cells, some people may have:
- Excess fluid in the uterus during pregnancy
- Developmental delay
- Intellectual disability
- Muscle stiffness
- Low muscle tone
- Motor issues
- Feeding difficulties
- Gastrointestinal defects
- Kidney issues
- Brain changes seen on magnetic resonance imaging (MRI)
- Breathing issues
- Growth delay
Do people who have 17p13.3 deletion syndrome look different?
People with 17p13.3 deletion syndrome may look different. Appearance can vary and can include some but not all of these features:
- Noticeable forehead
- Thin upper lip
- Small nose
- Low-set ears
- Small jaw
- Smaller than average head size
How many people have 17p13.3 deletion syndrome?
17p13.3 deletion syndrome or Miller-Dieker lissencephaly syndrome is a devastating condition that is often fatal in early childhood. The condition is very rare and usually affects 1 in every 100,000 births.
Research Article Summaries