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Crouzon syndrome
Many of the signs of Crouzon syndrome result from the early fusion of the skull bones during childhood. Abnormal growth of these bones leads to wide-set, bulging eyes due to shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw.
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.
trigeminal neuralgia
A painful condition caused by a disturbance in the function of the trigeminal nerve, which carries sensation from your face to your brain.
endorphins
Naturally occurring molecules made up of amino acids. Endorphins attach to special receptors in the brain and spinal cord to inhibit pain signals.
Genitourinary Birth Defect
Renal agenesis (bilateral), hypospadias (2nd or 3rd degree)
SADDAN
SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare inherited disorder of bone growth characterized by skeletal, brain, and skin abnormalities.
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.
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.
neural tube defect
A structure in early fetal life that develops into the brain, spinal cord, spinal nerves and spine.
cerebellum
The portion of the brain mainly responsible for balance and coordination.
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