Living with Microlissencephaly
A group of rare brain-formation conditions with a very small head, a smooth brain surface, seizures, and severe developmental delay.
Understanding Microlissencephaly
Microlissencephaly combines lissencephaly (a smooth brain surface with few or no grooves) with a very small head present at birth. It leads to muscle stiffness (spasticity), severe developmental delay, and seizures. It is seen in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smaller-than-average head size (microcephaly)
- Smooth brain surface (lissencephaly)
- Seizures
- Delays in reaching developmental milestones
- Severe intellectual disability
- Muscle stiffness and strong reflexes
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 Epilepsy Foundation
- 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, and it is inherited in an autosomal recessive way. This means a child inherits a changed copy of the gene from each parent.
Also known as: lissencephaly type iii; micro-lissencephaly; type 3 lissencephaly; type iii lissencephaly
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Microlissencephaly.
Explore research for Microlissencephaly
Explore actively recruiting Microlissencephaly studies with HealthSpark.
Find actively recruiting studies for Microlissencephaly 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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