Aicardi Syndrome

About- Aicardi syndrome is a rare genetic malformation syndrome mostly occurs in females characterized by the partial or complete absence of a key structure in the brain called the corpus callosum.

Symptoms-
 Infantile spasms
 Yellowish spots on the eyes
 Lesions on the retina
 A coloboma, which is a hole or gap in one of the structures of the eye
 Abnormally small eyes
 An unusually small head
 Small or malformed hands
 Intellectual disabilities
 Developmental delays
 Feeding problems
 Diarrhoea
 Constipation
 Gastroesophageal reflux
 Spasticity or hypertonia
 Vascular malformations or vascular malignancy
 Microcephaly
 Scoliosis
 Prominent premaxilla
 Cleft lip or palate
 Precocious or delayed puberty
 
Causes-
The exact cause of Aicardi syndrome isn’t known. It may be related to the defect on the X chromosome
 
Specialists to Visit-
 Pediatric neurologist 
 Medical genetics

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References-
https://en.wikipedia.org
https://www.healthline.com
https://ghr.nlm.nih.gov
https://rarediseases.org
https://aicardisyndromefoundation.org
https://www.epilepsy.org.uk

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