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Aicardi Syndrome

Aicardi syndrome is a rare condition that affects your child’s brain and eyes. Seizures are a common symptom. It also causes developmental delays and intellectual disability. Research suggests it’s an X-linked genetic condition, as it mostly affects females. Aicardi syndrome may lead to a shortened life expectancy.

Overview

What is Aicardi syndrome?

Aicardi syndrome is a rare, present at birth condition that affects your child’s brain and eyes.

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The three most common features of Aicardi syndrome are:

  • Agenesis of the corpus callosum. The structure connecting the left and right sides of your child’s brain is partially or completely missing.
  • Coloboma or chorioretinal lacunae. Your child has a defect in their optic nerve or is missing tissue in the back of their eye (retina).
  • Seizures. Abnormal electrical activity in your child’s brain begins during infancy (infantile spasms) and continues, causing frequent seizures (epilepsy).

This is a life-threatening condition. Severe cases may affect your child’s life expectancy, but not all cases are severe. Your child will still be able to play, laugh and enjoy their childhood, even if it’s shorter than others. Your child’s provider will let you know what to expect for their situation, as it’s as unique as they are.

Your child will also build a close relationship with their providers, as they’ll need lifelong care and support. Resources are also available for parents and caregivers to help navigate your child’s needs as they grow.

Symptoms and Causes

Signs and symptoms of Aicardi syndrome can affect your child's brain, physical development and eyes
Aicardi syndrome signs and symptoms affecting a child's brain, development and eyes

Symptoms of Aicardi syndrome

Aicardi syndrome can affect many different parts of your child’s body, including their:

  • Brain
  • Eyes
  • Physical development

Brain signs and symptoms

Signs and symptoms of this condition that affect your child’s brain may include:

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  • Agenesis of the corpus callosum
  • Seizures (epilepsy)
  • Brain asymmetry
  • Abnormal (in size and number) brain folds or grooves
  • Brain cysts
  • Large ventricles (fluid-filled brain cavities)
  • Nerve cells collect in abnormal locations (heterotopia)

One early sign of Aicardi syndrome can be seizures that start when your child is a few months old. These may appear as infantile spasms. You may notice your child’s entire body makes sudden movements or jerks all at once. Seizures may occur several times a day and could get worse over time.

In addition, you may notice that your child misses developmental milestones for their age. This could include delays in walking and saying their first words. Intellectual disability is common and can range from mild to severe.

Eye signs

Aicardi syndrome signs that affect your child’s eyes could include:

  • A defect in the optic nerve (coloboma)
  • Missing retina tissue (chorioretinal lacunae)
  • Small or underdeveloped eyes (microphthalmia)

Mild cases may cause vision problems that require glasses and regular eye exams. Severe eye abnormalities usually cause blindness.

Physical development signs and symptoms

Aicardi syndrome can affect how certain parts of your child’s body develop. This can lead to the following physical characteristics:

  • Weak, floppy and uncoordinated muscles (hypotonia)
  • Small head size (microcephaly)
  • Spine and rib abnormalities, causing a spine curvature (scoliosis)
  • Large ears
  • Short space between upper lip and nose (philtrum)
  • Small, malformed hands
  • Thin eyebrows

Infants may have trouble sitting up on their own, grasping objects or walking. Your child may have one or multiple characteristics from this list, but likely not all of them.

Gastrointestinal symptoms may also happen with this condition, like:

Even with differences in the way certain parts of their body developed, your child may be able to do some things on their own, like:

  • Feed themselves.
  • Sit independently.
  • Speak short sentences or use alternative methods for communicating, like hand gestures.
  • Walk.
  • Use the toilet.

It may take your child longer than others to accomplish these skills. Some severe cases may prevent your child from mastering these skills. But each child’s case is different.

Aicardi syndrome causes

A gene variant on the X chromosome causes Aicardi syndrome. Research is ongoing to identify which gene it is.

The condition doesn’t run in families and happens randomly or sporadically. This means a new gene change causes it. You don’t inherit it from your biological parents.

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Risk factors of Aicardi syndrome

Almost all cases of Aicardi syndrome affect females. This is because a gene variant targets one X chromosome.

Females have two X chromosomes. Males have an X and a Y chromosome. These chromosomes identify whether you’ll have male or female physical sex characteristics.

The condition is fatal in males, as they only have one X chromosome. Females have two X chromosomes and still have one unaffected X chromosome.

Complications of Aicardi syndrome

Aicardi syndrome can lead to early death. The main causes are:

  • Prolonged and difficult-to-treat seizures
  • Feeding issues
  • Breathing problems

Your child may be more at risk of life-threatening outcomes from respiratory infections like pneumonia. This is usually due to muscle weakness in their lungs and diaphragm. It can make managing these infections difficult.

Diagnosis and Tests

How doctors diagnose Aicardi syndrome

A healthcare provider may detect signs of Aicardi syndrome before birth during a prenatal ultrasound. They’ll confirm a diagnosis after your child is born by looking for signs or symptoms that affect your child’s brain and eyes.

Tests can confirm a diagnosis and may include:

  • MRI of the brain to check the corpus callosum and other brain structures.
  • EEG to assess brainwaves and confirm an epilepsy diagnosis.
  • Eye exam from a pediatric ophthalmologist to check for coloboma and choroidal lacunae.

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Management and Treatment

How is Aicardi syndrome treated?

Treatment for Aicardi syndrome varies based on how symptoms affect your child.

Antiseizure medications can help regulate seizures. Sometimes, seizures are difficult to treat. There isn’t one medication that works well for everyone. Your child’s provider may offer several different types of antiseizure medications to find one that works best.

Implantable devices, such as a vagus nerve stimulator, help regulate brain activity. This may be an option if medications aren’t successful.

Other types of treatment may include:

Your child will need support throughout their life, especially if they have intellectual disabilities. Support is also available to families and caregivers to help you care for your child and have access to resources if necessary.

When should I see my child’s healthcare provider?

If your child didn’t receive a diagnosis during infancy, and they’re missing developmental milestones for their age, like speaking their first words or sitting upright on their own, contact their healthcare provider.

Contact emergency services if your child has a seizure for the first time.

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What questions should I ask my child’s healthcare provider?

You may have a lot of questions after learning about your child’s diagnosis. You may want to ask:

  • How severe are my child’s symptoms?
  • What symptoms should I look out for?
  • What do I do if my child has a seizure?
  • What type of treatment do you recommend?
  • Are there side effects of treatment?
  • What’s my child’s life expectancy?

Outlook / Prognosis

What can I expect if my child has Aicardi syndrome?

It’s difficult to know how Aicardi syndrome will affect your child, as the condition is rare and symptoms can vary widely from one person to the next. Your child’s healthcare provider will let you know about your child’s outlook specifically.

Your child will need support throughout their life, as they may not be able to do many things on their own safely or live independently. They’ll need ongoing medical care, therapies and supportive services. Your child’s care team will help you along the way so you know what to expect and how to better support your child.

What’s the life expectancy for Aicardi syndrome?

Your child’s future well-being depends on their symptoms and how severe they are. Severe symptoms may cause your child to have a short life expectancy. Many people with mild symptoms survive into adulthood.

This is different for each person, so talk to your child’s healthcare provider for the most accurate information.

A note from Cleveland Clinic

It may be one of the most difficult things for a parent or caregiver to hear — that your child has a rare condition like Aicardi syndrome. You likely have a lot of questions about what this means and what to expect. While healthcare providers can’t predict the future, they can offer care and support to make sure your child has everything they need to stay as healthy as possible.

Care for Aicardi syndrome is lifelong. While this may be a very stressful and emotional journey, know that your child’s providers will be there with you every step of the way. Don’t hesitate to reach out if you need help or have any questions.

Care at Cleveland Clinic

When your child has a neurological condition, you want them to have the best care. At Cleveland Clinic Children’s, we offer compassionate, personalized treatment.

Medically Reviewed

Last reviewed on 04/29/2025.

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