Lissencephaly

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ORPHA:48471
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1Active trials7Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Lissencephaly, which means 'smooth brain' in Greek, is a rare brain development disorder present from birth. In a typical brain, the surface has many folds and grooves. In lissencephaly, the brain surface is abnormally smooth because the brain cells (neurons) did not migrate to the right places during fetal development, usually between weeks 12 and 24 of pregnancy. This is why lissencephaly is sometimes called a 'neuronal migration disorder.' There are different types, including isolated lissencephaly sequence (ILS) and Miller-Dieker syndrome, which includes lissencephaly along with other physical features. The smooth brain surface severely affects how the brain works. Most children with lissencephaly have significant intellectual disability, very limited motor skills, and difficulty feeding. Seizures are extremely common and often hard to control. Muscle tone problems — either too stiff (spasticity) or too floppy (hypotonia) — are also typical. Some children may have trouble swallowing, which raises the risk of lung infections from inhaling food or liquid. There is currently no cure for lissencephaly. Treatment focuses on managing symptoms, especially seizures, and supporting development as much as possible. Anti-seizure medications, physical therapy, occupational therapy, speech therapy, and nutritional support are the main tools available. The care team usually includes several specialists working together to improve quality of life for the child and family.

Key symptoms:

Severe intellectual disabilitySeizures, often starting in infancy and difficult to controlVery limited or absent ability to walk or sit independentlyMuscle stiffness (spasticity) or floppiness (hypotonia)Difficulty swallowing and feeding problemsLittle or no speech developmentSlow or absent developmental milestonesSmall head size (microcephaly) in some casesAbnormal eye movementsBreathing difficulties in severe casesRecurrent lung infections from inhaling food or salivaGrowth problems and poor weight gain

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

FDA & Trial Timeline

1 event
Apr 1996Human Epilepsy Genetics--Neuronal Migration Disorders Study

Harvard University Faculty of Medicine

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Lissencephaly.

1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →
Other1 trial
Human Epilepsy Genetics--Neuronal Migration Disorders Study
Actively Recruiting
PI: Christopher A. Walsh, M.D., Ph.D. (Harvard Institutes of Medicine) · Sites: Boston, Massachusetts

Specialists

7 foundView all specialists →
CP
Christopher A. Walsh, M.D., Ph.D.
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Lissencephaly.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Lissencephaly

Disease timeline:

New recruiting trial: Human Epilepsy Genetics--Neuronal Migration Disorders Study

A new clinical trial is recruiting patients for Lissencephaly

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.Which specific gene or chromosome change is causing my child's lissencephaly, and what does that mean for their prognosis?,What is the best seizure management plan for my child, and what should I do if a seizure lasts more than 5 minutes?,Is my child at risk of aspiration, and should we consider a feeding tube?,What therapies (physical, occupational, speech) should my child be receiving, and how often?,Are there any clinical trials or research studies that my child might be eligible for?,What support services and respite care are available for our family?,Should other family members be tested, and what is the chance of this happening again in a future pregnancy?

Common questions about Lissencephaly

What is Lissencephaly?

Lissencephaly, which means 'smooth brain' in Greek, is a rare brain development disorder present from birth. In a typical brain, the surface has many folds and grooves. In lissencephaly, the brain surface is abnormally smooth because the brain cells (neurons) did not migrate to the right places during fetal development, usually between weeks 12 and 24 of pregnancy. This is why lissencephaly is sometimes called a 'neuronal migration disorder.' There are different types, including isolated lissencephaly sequence (ILS) and Miller-Dieker syndrome, which includes lissencephaly along with other phys

At what age does Lissencephaly typically begin?

Typical onset of Lissencephaly is neonatal. Age of onset can vary across affected individuals.

Are there clinical trials for Lissencephaly?

Yes — 1 recruiting clinical trial is currently listed for Lissencephaly on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Lissencephaly?

7 specialists and care centers treating Lissencephaly are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.