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PubMed This is a summary of 44 peer-reviewed journal articles Updated
Pediatrics

Navigating Miller-Dieker Syndrome: A Guide for Caregivers

At a Glance

Miller-Dieker Syndrome (MDS) is a rare genetic condition caused by a 17p13.3 microdeletion that affects brain development. This guide helps caregivers understand the diagnosis, build a multidisciplinary care team, manage daily challenges like seizures, and plan for long-term care.

Receiving a diagnosis of Miller-Dieker Syndrome (MDS) can be an isolating and overwhelming experience. This resource guide was created to help you understand your child’s diagnosis, build the right medical team, and navigate the daily challenges of care.

This guide is broken down into specific topics to help you find the information you need, when you need it:

01

Understanding Miller-Dieker Syndrome: An Introduction

Understand Miller-Dieker Syndrome (MDS) causes and diagnosis. Learn about lissencephaly, 17p13.3 microdeletion, and genetic testing for your child's care.

02

Signs, Symptoms, and Distinguishing MDS from Other Conditions

Learn the signs and symptoms of Miller-Dieker syndrome (MDS). Understand specific facial features, infantile spasms, and the difference between MDS and ILS.

03

The Diagnosis: Genetic Tests and Brain Scans

Learn how Miller-Dieker syndrome is diagnosed using MRI and genetic testing. Understand your child's 17p13.3 microdeletion report and brain scan results.

04

Medical Management and Daily Care

Learn about medical management and daily care for Miller-Dieker syndrome. Understand seizure treatments, feeding support, screenings, and your care team.

05

What to Expect: Prognosis and Long-Term Care

Understand the prognosis and long-term care for Miller-Dieker syndrome (MDS). Learn about life expectancy, developmental outlook, and palliative care support.

Remember, you do not have to absorb all of this information at once. Take it one day at a time, and use this guide to help you ask the right questions and advocate for your child’s comfort and well-being.

Common questions in this guide

What causes Miller-Dieker Syndrome?
Miller-Dieker Syndrome is a rare genetic disorder affecting brain development. It is caused by a missing piece of genetic material on chromosome 17, specifically known as a 17p13.3 microdeletion.
How is Miller-Dieker Syndrome diagnosed?
Doctors typically diagnose MDS using a combination of brain imaging, such as an MRI, to observe the brain's structure, and specific genetic tests to confirm the missing 17p13.3 genetic material.
What does daily medical management for a child with MDS involve?
Daily care often involves managing seizures, ensuring safe feeding, and participating in physical and occupational therapies. Building a coordinated medical team is essential to supporting your child's daily comfort and needs.
Who should coordinate my child's medical care team?
Because children with MDS need multiple specialists, it is highly recommended to establish a primary coordinator. This 'hub' is often a complex care pediatrician or neurologist who helps communicate your goals to the entire medical team.
Are there support organizations for Miller-Dieker Syndrome?
Yes, there are support organizations and clinical registries specifically for families navigating lissencephaly and MDS. Asking your doctor about these groups can help you connect with additional resources and emotional support.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Who will act as the primary coordinator or 'hub' for my child's multidisciplinary specialists?
  2. 2.How do we best communicate our goals of care with the entire medical team?
  3. 3.Are there specific clinical trials, registries, or support organizations for lissencephaly or MDS that we should consider joining?

Questions For You

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This guide is for informational purposes only and does not replace professional medical advice. Always consult your child's pediatrician, neurologist, or genetics team regarding their specific care and medical management.

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