Overview
Midline cerebral malformation is a rare group of brain abnormalities that affect the structures located along the center (midline) of the brain. These structures include the corpus callosum (the band of nerve fibers connecting the two halves of the brain), the septum pellucidum, and other midline brain structures. When these structures do not form properly during fetal development, it can lead to a range of neurological problems. The severity of midline cerebral malformations varies widely. Some individuals may have mild symptoms, while others can experience significant developmental delays, intellectual disability, seizures, vision problems, and hormonal imbalances. The specific symptoms depend on which midline structures are affected and how severely they are malformed. Some patients may also have abnormalities of the pituitary gland, leading to hormone deficiencies. There is currently no cure for midline cerebral malformations. Treatment focuses on managing symptoms and supporting development. This may include anti-seizure medications, hormone replacement therapy, physical therapy, occupational therapy, speech therapy, and special education services. Early intervention programs can help children reach their full developmental potential. A team of specialists typically works together to provide comprehensive care tailored to each patient's specific needs.
Also known as:
Key symptoms:
Developmental delaysIntellectual disabilitySeizures or epilepsyVision problemsHormonal imbalancesDifficulty with coordination and balanceSpeech and language delaysLearning difficultiesAbnormal head size (too large or too small)Feeding difficulties in infancyMuscle tone problems (too stiff or too floppy)Behavioral challengesSleep disturbancesGrowth problems
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
2 eventsAnkara Etlik City Hospital
Imperial College London — PHASE3
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Midline cerebral malformation.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Midline cerebral malformation at this time.
New trials open frequently. Follow this disease to get notified.
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 Midline cerebral malformation.
Community
No community posts yet. Be the first to share your experience with Midline cerebral malformation.
Start the conversation →Latest news about Midline cerebral malformation
Disease timeline:
New recruiting trial: Erythropoietin for Neonatal Encephalopathy in LMIC (EMBRACE Trial)
A new clinical trial is recruiting patients for Midline cerebral malformation
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 midline brain structures are affected in my child, and what does that mean for their development?,Should we pursue genetic testing to look for an underlying cause, and how would the results change our care plan?,Are there any hormone deficiencies we need to test for and treat?,What therapies (physical, occupational, speech) should we start, and how often?,What is the risk of seizures, and what should I do if one occurs?,Is there a risk of hydrocephalus, and what signs should I watch for?,Are there any clinical trials or research studies that might be relevant for us?
Common questions about Midline cerebral malformation
What is Midline cerebral malformation?
Midline cerebral malformation is a rare group of brain abnormalities that affect the structures located along the center (midline) of the brain. These structures include the corpus callosum (the band of nerve fibers connecting the two halves of the brain), the septum pellucidum, and other midline brain structures. When these structures do not form properly during fetal development, it can lead to a range of neurological problems. The severity of midline cerebral malformations varies widely. Some individuals may have mild symptoms, while others can experience significant developmental delays,
At what age does Midline cerebral malformation typically begin?
Typical onset of Midline cerebral malformation is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Midline cerebral malformation?
8 specialists and care centers treating Midline cerebral malformation are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.