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Definitions (64)
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hemophilia
Hemophilia is a rare inherited disorder in which the blood does not clot normally. Symptoms may include excessive bruising, joint pain, unexplainable bleeding, prolonged bleeding, and nose bleeds. The [..]
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Phenylketonuria
PKU is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine. People with PKU need to follow a diet that limits phenylalanine, which is [..]
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Thalassemia
Thalassemia (Mediterranean anemia) is an inherited blood disorder characterized by less hemoglobin and fewer red blood cells in your body than normal. Symptoms include fatigue, weakness, shortness of [..]
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Central nervous system
Arachoid cysts Arachoid cysts are cerebrospinal fluid-filled sacs that may develop between the surface of the brain and the cranial base or on the arachnoid membrane. These cysts can be present at bir [..]
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cerebral palsy
Cerebral Palsy (CP) is an umbrella term for any group of disorders caused by abnormal development or damage in one or more parts of the brain that control muscle tone and motor activity (movement). Th [..]
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Epilepsy
Epilepsy is a general term for conditions with recurring seizures. There are many kinds of seizures, but all involve abnormal electrical activity in the brain that causes an involuntary change in body [..]
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hydrocephalus
Hydrocephalus is a condition in which the primary characteristic is excessive accumulation of cerebral spinal fluid (CSF) in the brain. The excessive accumulation of CSF results in an abnormal dilatio [..]
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microcephaly
Microcephaly is a medical condition in which the circumference of the head is smaller than normal because the brain has not developed properly or has stopped growing. Microcephaly can be present at bi [..]
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Neurofibromatosis
Neurofibromatosis (NF) is a condition that causes tumors to grow on nerve tissue, producing skin and bone abnormalities. NF is often diagnosed in childhood; occasionally in infancy (in children with s [..]
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Spina bifida
Spina Bifida (SB) is a birth defect that involves the incomplete development of the spinal cord or its coverings.
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