Aicardi+Syndrome-Morgan+H

 ﻿ Aicardi Syndrome

**Description: ** This is a rare inherited disorder. In which the structure that connects the two parts of the brain is partially or fully missing. This disorder only affects girls.

**Inheritance: ** A gene defect in the X chromosomes

**Symptoms: ** Usually starts when the child is between the age of 3 and 5 months. The condition causes jerking (infantile spasms) a type of childhood seizure.

**Daily Life: ** Children have severe learning difficulties and remain completely dependent on others. A few some language abilities. Some can walk on their own or with support. Vision varies from normal to blind.

**Diagnosis: ** With several tests. · Genotype is XXY · Retinal lesions · Seizures · Complete or partial absences of the corpus callosum · Abnormal formation in the brain such as Microglia · <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Cyst in certain places in the brain · <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Optic disk or nerve damage

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Treatment: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">Treatment is supportive. It involves managing seizures and any other health concerns, using programs to help family and child cope with development.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Research: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">Doctors and students at major hospitals and universities are doing more tests and research to help find cures and different ways this disorder is created. **<span style="color: black; font-family: 'Times','serif';">Additional Facts **<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">: <span style="color: black; font-family: 'Times','serif'; font-size: 12pt; line-height: normal; margin: 0in 0in 0pt;">Typical findings in the brain of girls with Aicardi syndrome include heterotopias, which are groups of brain cells that, during development, migrated to the wrong area of brain; polymicrogyria or pachygyria, which are numerous small, or too few, brain folds; and cysts, in the brain. Girls with Aicardi syndrome have varying degrees of mental retardation and developmental delay. Many girls also have developmental abnormalities of their optic nerves and some have microphthalmia Skeletal problems such as absent or abnormal ribs and abnormalities of vertebrae in the spinal column have also been reported. Some girls also have skin problems, facial asymmetry, or other characteristic facial features.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Punnett Square: **

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Pedigree Chart: **



**<span style="color: black; font-family: 'Times New Roman','serif';">﻿ ****<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Resources: **

PubMed Health [|**http://www.ncbi.nih.gov**] Aicardi Syndrome Association [|**http://www.aicardisyndrome.org**] Mama’s Health [|**http://mamashealth.com**]

Nero Science Lexicon [|**http://www.neurolex.org**] media type="custom" key="9499218" align="center"