Overview
Cobblestone lissencephaly is a rare and serious brain development disorder that affects babies before birth. The name comes from the unusual appearance of the brain's surface, which looks bumpy like a cobblestone street instead of having the normal smooth folds. This happens because brain cells migrate to the wrong places during early fetal development, causing the outer layer of the brain (the cortex) to form incorrectly. It is also sometimes called cobblestone cortical malformation or type II lissencephaly. This condition is part of a group of related disorders that often affect not just the brain but also the eyes and muscles. The most well-known of these related syndromes include Walker-Warburg syndrome, Muscle-Eye-Brain disease, and Fukuyama congenital muscular dystrophy. Children with cobblestone lissencephaly typically have severe intellectual disability, very poor muscle tone (called hypotonia), epilepsy (seizures), and significant problems with vision. Many also have structural eye abnormalities and muscle weakness from birth. There is currently no cure for cobblestone lissencephaly. Treatment focuses on managing symptoms, especially seizures, supporting breathing and feeding, and providing physical, occupational, and speech therapy. The condition is caused by changes (mutations) in genes that help build a protective coating around nerve cells, and it is usually inherited in an autosomal recessive pattern, meaning both parents carry a copy of the changed gene.
Also known as:
Key symptoms:
Severe intellectual disabilityVery low muscle tone (floppy baby) from birthEpilepsy and frequent seizuresStructural eye problems such as small eyes (microphthalmia) or abnormal retinaVision loss or severely reduced visionMuscle weakness affecting the whole bodyDifficulty swallowing and feedingAbnormally small head size (microcephaly) or enlarged head due to fluid buildup (hydrocephalus)Little or no ability to speakLimited voluntary movementBreathing difficultiesStiff or contracted joints (contractures)Abnormal brain structure visible on MRI scan
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Cobblestone lissencephaly.
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Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Cobblestone lissencephaly.
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Caregiver Resources
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Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific gene mutation does my child have, and what does that mean for their prognosis?,What is the best seizure management plan for my child, and when should I call for emergency help?,Does my child need a feeding tube, and how do I care for it at home?,What therapies (physical, occupational, speech) are recommended, and how often should they happen?,Are there any clinical trials or research studies we should consider enrolling in?,What is the recurrence risk for future pregnancies, and should other family members be tested?,What palliative care and family support resources are available to us?
Common questions about Cobblestone lissencephaly
What is Cobblestone lissencephaly?
Cobblestone lissencephaly is a rare and serious brain development disorder that affects babies before birth. The name comes from the unusual appearance of the brain's surface, which looks bumpy like a cobblestone street instead of having the normal smooth folds. This happens because brain cells migrate to the wrong places during early fetal development, causing the outer layer of the brain (the cortex) to form incorrectly. It is also sometimes called cobblestone cortical malformation or type II lissencephaly. This condition is part of a group of related disorders that often affect not just th
How is Cobblestone lissencephaly inherited?
Cobblestone lissencephaly follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cobblestone lissencephaly typically begin?
Typical onset of Cobblestone lissencephaly is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Cobblestone lissencephaly?
6 specialists and care centers treating Cobblestone lissencephaly are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.