Living with Miller Dieker syndrome
A genetic condition in which the brain surface is unusually smooth, causing severe developmental delay, seizures, and distinctive facial features.
Understanding Miller Dieker syndrome
The brain surface normally has folds and grooves, and in lissencephaly it is smooth. In Miller-Dieker syndrome this is linked with severe intellectual disability, developmental delay, weak muscle tone (hypotonia), and seizures that usually start in the first months of life. Distinctive facial features are common. Some people grow more slowly, and less often have heart problems, kidney problems, or an omphalocele (an opening in the belly wall near the navel).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smooth brain surface (lissencephaly)
- Seizures
- Slow growth
- Prominent forehead
- Short nose with upturned tip
- Heart differences
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Chromosome Disorder Outreach and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (also called variants) cause this condition. GARD lists it as autosomal dominant, but does not name a specific gene in this record.
Also known as: lissencephaly due to 17p13.3 deletion; lissencephaly syndrome, miller-dieker; mdls; miller-dieker lissencephaly syndrome; miller-dieker syndrome; monosomy 17p13.3
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Miller Dieker syndrome.
Explore research for Miller Dieker syndrome
Explore actively recruiting Miller Dieker syndrome studies with HealthSpark.
Find actively recruiting studies for Miller Dieker syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Miller Dieker syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Miller Dieker syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Miller Dieker syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.