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Muenke syndrome
The primary feature of this disease is prematurely fused skull bones along the coronal suture, the growth line which goes over the head from ear to ear. This can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones.
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
Genitourinary Birth Defect
Renal agenesis (bilateral), hypospadias (2nd or 3rd degree)
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.
brain tumor
An abnormal growth of tissue in the brain
Spina bifida
Is a condition that often has disabling consequences. With severe spina bifida, a person’s legs and feet are paralyzed, and there are problems with bowel and bladder control. Learning disabilities are common, and mental retardation sometimes occurs
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.
Alexander disease
Alexander disease is considered one of the leukodystrophies, a group of disorders where the primary abnormality is the inability to maintain the fatty covering (myelin) that insulates nerve fibers in the brain. Alexander disease is a rare disorder of the nervous system that usually begins during infancy or early childhood.
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.
BDPM
Birth Defects Monitoring Program
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