17p13.3 Deletion

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
  • Seizures
  • 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.


Support Resources




GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

There is currently no GeneReviews for 17p13.3 Deletion.


Research Article Summaries

We currently do not have any article summaries for 17p13.3 Deletion, but we add resources to our website as they become available.

The information available about 17p13.3 Deletion is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for 17p13.3 Deletion articles can be found here.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about 17p13.3 Deletion genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.


Family Stories

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