Aicardi syndrome is a rare congenital disorder that causes malformations affecting the brain, eyes and other body parts. Children typically experience lifelong challenges with disabilities, seizures and other medical issues.
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Aicardi syndrome is a rare disorder that’s present at birth (congenital). It causes malformations in the brain, eyes and other parts of the body. It leads to lifelong difficulties, including intellectual disabilities and developmental delay.
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Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy
Aicardi syndrome occurs in 1 out of every 100,000 live births. There are approximately 1,000 cases in the US and roughly 4,000 worldwide.
The condition has three common issues:
It’s possible to have Aicardi syndrome and not have all three issues. Many children experience additional symptoms and delays.
A gene mutation on the X chromosome causes the condition. Researchers have not yet identified which gene.
Nearly all cases are girls. A small number of boys have it. Boys typically also have Klinefelter syndrome, which affects testosterone levels.
The first sign is seizures that start early in life when a child is a few months old. They are often infantile spasms in which the entire body jerks at once. Seizures occur several times a day and may get worse over time.
Aicardi syndrome can affect many areas of the body, causing symptoms such as:
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Fetal MRI and prenatal ultrasound may show signs of brain abnormalities before a child is born.
Tests that confirm the diagnosis after a child is born include:
Seizure treatments are an essential part of therapy. Your child’s seizures may occur several times a day and be difficult to treat. Care may include:
They may need services from a team of healthcare providers that includes:
No. The mutation responsible for Aicardi syndrome is spontaneous. It occurs for no known reason.
The condition does not run in families, so it’s doubtful future children would have it.
Your child’s future well-being depends on their symptoms and how severe they are. Two of the biggest concerns are:
In many cases, yes. Children often survive into their 30s. Those who do not experience severe respiratory issues have a good chance of survival. And as children get older, their likelihood of survival increases.
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Ongoing medical issues along with disabilities mean life with Aicardi syndrome will be different.
Many children can:
Your child will likely also:
A note from Cleveland Clinic
Aicardi syndrome is a rare congenital disorder that affects children in many ways. Treatments to control seizure activity and prevent respiratory infections give your child the best chances for survival. Supportive therapies can maximize their abilities and independence. Your child will need lifelong medical care and support. With continual care, they can have a good quality of life.
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Last reviewed on 10/21/2021.
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