Overview
Cobblestone lissencephaly type C is an obsolete (no longer actively used) medical term that was once used to describe a specific form of a brain malformation called cobblestone lissencephaly. In cobblestone lissencephaly, the surface of the brain appears bumpy and irregular, somewhat like a cobblestone street, instead of having the normal pattern of folds and grooves. This happens because during early brain development, brain cells migrate too far and push through the surface layer of the brain. This type of brain malformation leads to severe intellectual disability, seizures, muscle weakness or stiffness, and often problems with the eyes. The term 'type C' was used to distinguish it from other subtypes (types A and B, which are associated with well-known conditions like Walker-Warburg syndrome and muscle-eye-brain disease). However, as genetic understanding improved, this classification became obsolete and was retired from active use in disease databases like Orphanet. Patients who might have been classified under this term are now more precisely diagnosed based on their specific genetic cause. Because this is an obsolete classification, there is limited specific information available, and affected individuals are now categorized under more current diagnostic terms related to cobblestone lissencephaly or dystroglycanopathies. Treatment is primarily supportive, focusing on managing seizures, supporting development, and addressing eye and muscle problems.
Also known as:
Key symptoms:
Severe intellectual disabilitySeizures or epilepsyAbnormal brain structure visible on MRIMuscle weakness or floppinessStiff or tight musclesVision problems or blindnessEye abnormalitiesDelayed motor developmentDifficulty feedingSmall head size (microcephaly)Delayed or absent speechDifficulty sitting or walking independently
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 C.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Cobblestone lissencephaly type C.
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 C.
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 specific genetic cause has been identified in my child, and what does it mean for their outlook?,What is the best approach to managing my child's seizures?,Are there any clinical trials or research studies my child might be eligible for?,What therapies and early intervention services should we start right away?,How should we handle feeding difficulties, and will my child need a feeding tube?,What eye problems should we watch for, and how often should vision be checked?,What support services and resources are available for our family?
Common questions about OBSOLETE: Cobblestone lissencephaly type C
What is OBSOLETE: Cobblestone lissencephaly type C?
Cobblestone lissencephaly type C is an obsolete (no longer actively used) medical term that was once used to describe a specific form of a brain malformation called cobblestone lissencephaly. In cobblestone lissencephaly, the surface of the brain appears bumpy and irregular, somewhat like a cobblestone street, instead of having the normal pattern of folds and grooves. This happens because during early brain development, brain cells migrate too far and push through the surface layer of the brain. This type of brain malformation leads to severe intellectual disability, seizures, muscle weakness
How is OBSOLETE: Cobblestone lissencephaly type C inherited?
OBSOLETE: Cobblestone lissencephaly type C 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 C typically begin?
Typical onset of OBSOLETE: Cobblestone lissencephaly type C is neonatal. Age of onset can vary across affected individuals.