Overview
Cobblestone lissencephaly type A, also known as type II lissencephaly or cobblestone cortical malformation, is a severe brain malformation that affects how the brain develops before birth. The term 'OBSOLETE' in the name means this specific classification is no longer used as a standalone diagnosis — it has been reclassified under broader groups of conditions called cobblestone malformations or dystroglycanopathies. In this condition, the surface of the brain, which normally has smooth folds, instead has an irregular, bumpy appearance resembling cobblestones. This happens because brain cells migrate too far during fetal development, breaking through the outer surface of the brain. This type of brain malformation is most commonly seen as part of larger syndromes, including Walker-Warburg syndrome, Muscle-Eye-Brain disease, and Fukuyama congenital muscular dystrophy. Children born with cobblestone lissencephaly typically have severe intellectual disability, seizures, very low muscle tone or muscle weakness, and eye abnormalities that can cause vision problems. Many affected children also have hydrocephalus (excess fluid in the brain). There is currently no cure for cobblestone lissencephaly. Treatment focuses on managing symptoms such as seizures, feeding difficulties, and physical therapy to support development. The outlook depends heavily on the specific underlying syndrome and its severity. Because this classification is now obsolete, patients and families should work with their medical team to identify the specific underlying genetic condition, which will guide more precise management and genetic counseling.
Also known as:
Key symptoms:
Severe intellectual disabilitySeizures or epilepsyVery weak or floppy muscles (low muscle tone)Severe developmental delaysVision problems or blindnessAbnormal eye structureHydrocephalus (fluid buildup in the brain)Feeding difficultiesInability to sit, stand, or walk independentlySmall head size or abnormally large headMuscle weakness or muscular dystrophyDifficulty swallowingLimited or absent speech
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 OBSOLETE: Cobblestone lissencephaly type A.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Cobblestone lissencephaly type A.
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 OBSOLETE: Cobblestone lissencephaly type A.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
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.What specific genetic condition is causing my child's cobblestone lissencephaly?,What is the expected course of this condition for my child specifically?,What seizure medications are best suited, and what side effects should I watch for?,Does my child need a shunt for hydrocephalus, and what are the signs of shunt problems?,What therapies and early intervention services should we start right away?,What is the chance of this condition occurring again in a future pregnancy?,Are there any clinical trials or research studies we could participate in?
Common questions about OBSOLETE: Cobblestone lissencephaly type A
What is OBSOLETE: Cobblestone lissencephaly type A?
Cobblestone lissencephaly type A, also known as type II lissencephaly or cobblestone cortical malformation, is a severe brain malformation that affects how the brain develops before birth. The term 'OBSOLETE' in the name means this specific classification is no longer used as a standalone diagnosis — it has been reclassified under broader groups of conditions called cobblestone malformations or dystroglycanopathies. In this condition, the surface of the brain, which normally has smooth folds, instead has an irregular, bumpy appearance resembling cobblestones. This happens because brain cells m
How is OBSOLETE: Cobblestone lissencephaly type A inherited?
OBSOLETE: Cobblestone lissencephaly type A follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Cobblestone lissencephaly type A typically begin?
Typical onset of OBSOLETE: Cobblestone lissencephaly type A is neonatal. Age of onset can vary across affected individuals.