Living with Cobblestone lissencephaly
An inherited brain condition with a smooth brain surface, distinct skull and face features, severe learning disability, and seizures.
Understanding Cobblestone lissencephaly
Features include a low, sloping forehead, a prominent back of the head, a broad nasal bridge, and widely set eyes. People typically also have severe or profound intellectual disability, seizures, increased muscle tone, brisk reflexes, and severe growth failure. GARD lists onset in the newborn period and infancy.
Signs & symptoms
GARD doesn't list specific symptoms for this condition, but the summary describes:
- Smooth brain surface (lissencephaly)
- Severe or profound intellectual disability
- Seizures
- Increased muscle tone and brisk reflexes
- Severe growth problems
- Low, sloping forehead and wide-set eyes
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 Child Neurology Foundation 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
GARD says it is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent. Changes in the RELN gene have been found in some people.
Also known as: lissencephaly type 2; lissencephaly type ii; type 2 lissencephaly; type ii lissencephaly
Patient organizations
- Child Neurology FoundationCobblestone lissencephaly · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Cobblestone lissencephaly.
Explore research for Cobblestone lissencephaly
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- Recruiting studies from ClinicalTrials.gov
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- 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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