Overview
Cobblestone lissencephaly type B is an obsolete (no longer actively used) medical term that was previously used to describe a specific type of brain malformation. In this condition, the surface of the brain appears bumpy or 'cobblestone-like' instead of having the normal smooth folds. This happens because during early brain development, brain cells migrate too far and push through the surface of the brain, creating an irregular, cobblestone-like appearance. Type B was historically associated with muscle-eye-brain disease (MEB disease), a condition that affects the brain, eyes, and muscles. This term has been replaced by more specific diagnoses that fall under the broader category of 'dystroglycanopathies' — a group of disorders caused by problems with a protein called dystroglycan, which is important for normal development of the brain, eyes, and muscles. Patients previously diagnosed with cobblestone lissencephaly type B would now typically be classified under muscle-eye-brain disease or a related dystroglycanopathy. Key symptoms include intellectual disability, vision problems, muscle weakness (muscular dystrophy), seizures, and delayed development. There is currently no cure, and treatment focuses on managing symptoms such as seizures, supporting vision, and providing physical therapy for muscle weakness. Because this term is obsolete, patients and families should work with their medical team to identify the specific current diagnosis that applies to them, which will help guide the most appropriate care and genetic counseling.
Also known as:
Key symptoms:
Intellectual disabilitySevere developmental delayMuscle weakness from birth or early infancyVision problems or blindnessSeizures or epilepsyAbnormal brain structure visible on MRIDifficulty feeding as a babyPoor muscle tone (floppiness)Nearsightedness or other eye abnormalitiesDelayed or absent speechDifficulty walking or inability to walkHydrocephalus (fluid buildup in the brain)Small head size (microcephaly) in some cases
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 B.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Cobblestone lissencephaly type B.
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 B.
Community
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Caregiver Resources
NORD Caregiver Resources
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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 is the specific genetic cause of my child's condition, and has genetic testing been completed?,How severe is the brain malformation, and what does this mean for my child's development?,What eye problems does my child have, and can any of them be treated?,What is the best plan for managing seizures, and what should I do if a seizure does not stop?,Are there any clinical trials or research studies my child might be eligible for?,What therapies (physical, occupational, speech) should we start, and how often?,What does this diagnosis mean for future pregnancies, and should our family have genetic counseling?
Common questions about OBSOLETE: Cobblestone lissencephaly type B
What is OBSOLETE: Cobblestone lissencephaly type B?
Cobblestone lissencephaly type B is an obsolete (no longer actively used) medical term that was previously used to describe a specific type of brain malformation. In this condition, the surface of the brain appears bumpy or 'cobblestone-like' instead of having the normal smooth folds. This happens because during early brain development, brain cells migrate too far and push through the surface of the brain, creating an irregular, cobblestone-like appearance. Type B was historically associated with muscle-eye-brain disease (MEB disease), a condition that affects the brain, eyes, and muscles. Th
How is OBSOLETE: Cobblestone lissencephaly type B inherited?
OBSOLETE: Cobblestone lissencephaly type B 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 B typically begin?
Typical onset of OBSOLETE: Cobblestone lissencephaly type B is neonatal. Age of onset can vary across affected individuals.