Living with Cobblestone lissencephaly without muscular or ocular involvement
A rare genetic brain condition with several brain differences, severe developmental delay, and seizures, with little or no muscle or eye involvement.
Understanding Cobblestone lissencephaly without muscular or ocular involvement
Brain differences include changes in the folds of the brain surface, white matter changes, and an underdeveloped cerebellum and brainstem. Muscle and eye involvement is minimal or absent. People typically have severe developmental delay, a larger head, hydrocephalus (extra fluid in the brain), and seizures. GARD lists onset in infancy and childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe developmental delay
- Brain white matter differences
- Small brainstem
- Brain tissue pushing out through the back of the skull
- Optic nerve shrinkage
- Seizures
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.
- 3Consider genetic testing
Changes in LAMB1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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 changes in the LAMB1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: cobblestone lissencephaly without muscular or eye involvement; leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus; lissencephaly 5; lissencephaly type 2 without muscular or eye involvement; lissencephaly type 2 without muscular or ocular involvement; lissencephaly type 5
Patient organizations
- Child Neurology FoundationCobblestone lissencephaly without muscular or ocular involvement · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Cobblestone lissencephaly without muscular or ocular involvement.
Explore research for Cobblestone lissencephaly without muscular or ocular involvement
Explore actively recruiting Cobblestone lissencephaly without muscular or ocular involvement studies with HealthSpark.
Find actively recruiting studies for Cobblestone lissencephaly without muscular or ocular involvement 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 Cobblestone lissencephaly without muscular or ocular involvement 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 Cobblestone lissencephaly without muscular or ocular involvement
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 Cobblestone lissencephaly without muscular or ocular involvement 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.