What are the symptoms of Aicardi syndrome?
What Are the Symptoms of Aicardi Syndrome?
- a coloboma, which is a hole or gap in one of the structures of the eye.
- abnormally small eyes.
- an unusually small head.
- hand deformities.
- intellectual disabilities.
- developmental delays.
- difficulty eating.
- diarrhea.
How does Aicardi syndrome affect the body?
People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum ). They have seizures beginning in infancy (infantile spasms), which tend to progress to recurrent seizures (epilepsy) that can be difficult to treat.
What is the survival rate of Aicardi syndrome?
Survival rates have been improving, with an estimated survival of 62% at age 27 years.
What does Aicardi cause?
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.
Can Aicardi syndrome be cured?
There is no cure for Aicardi syndrome nor is there a standard course of treatment. Treatment generally involves medical management of seizures and programs to help parents and children cope with developmental delays.
Who gets Aicardi syndrome?
Aicardi syndrome can be seen in boys born with an extra “X” chromosome. (Females have two X chromosomes, while males normally have an X and a Y chromosome.) The precise gene or genetic mechanism causing Aicardi syndrome is not yet known.
Are there any treatments for Aicardi?
Is Aicardi syndrome hereditary?
Causes. Aicardi syndrome is likely caused by a new mutation in a gene located on the X chromosome. The gene that causes Aicardi syndrome is not known. A report describing changes in the genes TEAD1 and OCEL1 in two girls with Aicardi was not confirmed in a large cohort of other girls with Aicardi syndrome.
Can Aicardi syndrome be detected before birth?
The diagnosis can be suspected by prenatal ultrasound with color Doppler identifying the agenesis of the corpus callosum. Usually, the diagnosis is confirmed in the neonate period by transfontanellar ultrasound and ophthalmological examination.