Aicardi Syndrome

By: Macey Cwiklowski

Researcher of Aicardi Syndrome

Aicardi Syndrome was first described by a French neurologist, Dr. Jean Aicardi, in the year of 1965. As of now Baylor College of Medicine and the University of California San Francisco are currently still researching Aicardi Syndrome.

Signs and Symptoms

  • A Coloboma
  • Abnormally small eyes
  • Unusually small head
  • Hand deformities
  • Intellectual disabilities
  • Developmental delays
  • Difficulty eating
  • Diarrhea
  • Constipation
  • Gastroesophageal reflux
  • Spasticity

How Common is it?

Aicardi Syndrome is a extremely rare disorder, it occurs in about 1 to 105,000 to 167,000 news in the US. Researchers estimate that about 4,000 people are affected worldwide.

Frequency of Syndrome

Aicardi is almost exclusively in females, but can occur in males that have Klinfelter Syndrome. Some reports say that Aicardi exist in normal males. Which means that it could possible be from mosaic syndrome. (Mosaic syndrome is more commonly known as mosaic down syndrome, and it happens when 15 out of 20 chromosomes have an extra 21 chromosome). It is more present in newborns and females.


There is no known cure for Aicardi Syndrome and no standard treatment that can be approached. Treatment is more focused on managing the child's seizures and symptoms.

Their are some aspects of managing Aicardi Syndrome:

  • Management of infantile spasms using antiepileptic drugs
  • Early intervention programs to help the family cope with development delays
These are a few ways to help with some symptoms


The prognosis depends on how severe the symptoms are and what other health conditions are present. Most children with Aicardi Syndrome have a learning difficulties and completely depend on others. Some have language abilities and some can walk with or without support, and vision varies it could be normal or they could be blind.

Punnett Square of Aicardi Syndrome

How the Syndrome is Inherited

Aicardi is a rare genetic condition that is almost only found in females, this condition is characterized by a partial or complete absence of an important brain structure which is called the corpus callosum it connects the two halves of the brain. It is an X-linked dominant and it is a chromosomal mutation. Other ways to tell if someone has Aicardi Syndrome is if they begin having seizures at infancy which will tend to progress other seizures that can be harder to treat. Some individuals have Chorioretinal Lacunae, which are defects in the light-sensitive tissue at the back of the eye the retina. Since this is a X-linked mutation you could guess that the most affected population are females, but it has been found in some males, and can occur to newborns.
Aicardi Syndrome Foundation. Rep. N.p., n.d. Web. 04 Apr. 2016.

Aicardi Syndrome." Genetics Home Reference. N.p., n.d. Web. 04 Apr. 2016.

"Mosaic Down Syndrome." Mosaic Down Syndrome. N.p., n.d. Web. 05 Apr. 2016.