Aicardi Syndrome

What is Aicardi syndrome? 

Aicardi syndrome is a rare, genetic neurological disorder in which all or part of the structure known as the corpus callosum—which links the two halves of the brain together—is missing. This disorder primarily affects newborn girls and the precise gene or gene mechanism that causes it has not been identified. Neurological symptoms may include: 

• Infantile spasms (a type of seizure disorder) 
• Lesions on the retina of the eyes 
• Lower muscle tone around the head and trunk of the body 
• Microcephaly (small head circumference)  
• Abnormal increase in muscle tone or stiffness (spasticity) 
• Intellectual disability and development delay 
• Heterotopias, or groups of brain cells that during development have migrated to the wrong areas of the brain 
• Numerous small, or too few, brain folds 
• Brain cysts  

Many people with Aicardi syndrome also have developmental abnormalities of the optic nerve and some have small eyes. Skeletal problems may include absent or abnormal ribs and abnormalities of vertebrae in the spinal column. Some people may have skin problems, facial asymmetry (where traits don't mirror exactly the other side of the face), small hands, and an increased incidence of tumors. 

There is no cure for Aicardi and treatment is symptomatic, such as managing seizures and helping parents and children cope with developmental delays. Depending on its severity, Aicardi syndrome can be fatal in childhood and adolescence, but some individuals live into adulthood. 

How can I or my loved one help improve care for people with Aicardi syndrome? 

Unfortunately, Aicardi syndrome a rare disease and most cases happen without a known cause. This means there is often not much information known about the disorder. Doctors and researchers do not see enough patients with this disorder. This makes it hard to learn from them through observations or large studies.  

Consider participating in a clinical trial so clinicians and scientists can learn more about Aicardi syndrome and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials at Clinicaltrials.gov. 

Where can I find more information about Aicardi syndrome? 

The following organization and resources help people living with Aicardi syndrome and their families, friends, and caregivers:

Aicardi Syndrome Foundation
Phone: 630-397-9728 

March of Dimes
Phone: 888-663-4637 

National Organization for Rare Disorders (NORD)
Phone: 203-744-0100 or 800-999-6673; 844-259-7178 Spanish 

More information about Aicardi syndrome is also available:

Genetic and Rare Diseases (GARD) Information Center 

MedlinePlus