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Eye Birth Defect
Anophthalmia/microphthalmia, congenital cataracts, glaucoma
Apert syndrome
Apert Syndrome is a genetic defect and falls under the broad classification of craniofacial/limb anomalies. It can be inherited from a parent who has Apert, or may be a fresh mutation. It occurs in approximately 1 per 160,000 to 200,000 live births. Apert syndrome is primarily characterized by specific malformations of the skull, midface, hands, and feet.
brain
The part of the central nervous system inside the skull. Its functions include muscle control and coordination, sensory reception and integration, speech production, memory storage and the elaboration of thought and emotion.
Guillain-Barre (ge-YAH buh-RA) syndrome
An inflammatory disorder in which the body's immune system attacks the nerves outside the brain and spinal cord (peripheral nerves) and, more rarely, parts of the brain itself.
hematoma
A collection of blood within the brain or on its surface that can cause increased pressure, which can damage brain cells and interrupt blood flow.
Ear Birth Defect
Anotia/microtia
NBDPS
National Birth Defects Prevention Study
Jackson-Weiss syndrome
Many of the characteristic facial features of Jackson-Weiss syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which can lead to a misshapen skull, widely spaced eyes, and a bulging forehead. Foot abnormalities are the most consistent characteristic, as not all individuals with Jackson-Weiss syndrome have abnormal skull or facial features.
vascular dementia
A common form of dementia that results either from narrowing and blockage of the arteries that supply blood to the brain or by strokes that cause an interruption of blood flow within the brain.
cerebellum
The portion of the brain mainly responsible for balance and coordination.
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