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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.
cerebral palsy
A disorder caused by injury to the cerebral area of the brain that occurs before or during birth or in the first few months after birth. Damage to the cerebrum may cause paralysis (palsy) in one or more parts of the body.
Pantothenate kinase-associated neurodegeneration
Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. The condition is characterized by progressive difficulty with movement and speech
hypothalamus
The part of the brain that controls body functions such as eating, sleeping and sexual behavior, maintains body temperature and chemical balance, and regulates many hormones.
Eye Birth Defect
Anophthalmia/microphthalmia, congenital cataracts, glaucoma
cerebellum
The portion of the brain mainly responsible for balance and coordination.
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.
aneurysm
The localized enlargement of a blood vessel, usually an artery, that forms a bulge or sac.
closed head injury
An injury to the head or brain in which the skull remains intact.
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