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The Service Tree lists all services in "branched" groups, starting with the very general and moving to the very specific. Click on the name of any group name to see the sub-groups available within it. Click on a service code to see its details and the providers who offer that service.

Aicardi Syndrome

Taxonomy Code: YF-3000.0265

An extremely rare genetic disorder seen almost exclusively in females that is characterized by three main features that occur together in most affected individuals: absent or underdeveloped tissue connecting the left and right halves of the brain, seizures beginning in infancy which tend to progress to recurrent seizures (epilepsy) that can be difficult to treat, and defects in the light-sensitive tissue at the back of the eye (retina). People with Aicardi syndrome often have additional brain abnormalities including asymmetry between the two sides of the brain, brain folds and grooves that are small in size or reduced in number, cysts, and enlargement of the fluid-filled cavities (ventricles) near the center of the brain; and most have moderate to severe developmental delay and intellectual disability. Other anomalies may include an unusually small head (microcephaly), small or poorly developed eyes or a gap or hole in the optic nerve which may cause blindness, spinal and rib abnormalities leading to curvature of the spine (scoliosis), and gastrointestinal problems such as constipation or diarrhea, gastroesophageal reflux and difficulty feeding.

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You might also be interested in:

Orphan Diseases (YF-3000.5760)

Genetic Disorders (YF-3000.3280)

Epilepsy (YF-3000.3035)

Intellectual Disabilities (YF-1800.5000)

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