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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.
enkephalins
(en-KEF-uh-lins). Naturally occurring molecules in the brain. Enkephalins attach to special receptors in the brain and spinal cord to inhibit pain messages. They also affect other functions within the brain and nervous system.
Cardiovascular Birth Defect
Conotruncal heart defects, septal heart defects, obstructive heart defects, atrioventricular septal defects, single ventricle, anomalous pulmonary venous return, heterotaxy, Ebstein malformation.
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.
Bell's palsy
A weakness or paralysis of the muscles that control expression on one side of the face because of damage to a facial nerve.
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.
Pfeiffer syndrome
Many of the characteristic facial features of Pfeiffer syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to bulging and wide-set eyes, an underdeveloped upper jaw, and a beaked nose.
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.
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.
Canavan disease
Canavan disease is an inherited disorder of the central nervous system in which affected individuals cannot break down a compound called N-acetyl-L-aspartic acid (NAA). Canavan disease is one of a group of genetic disorders called the eukodystrophies.
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