22q11.2 deletion syndrome is a genetic condition that causes a combination of medical problems. These problems may include heart defects, cleft palate, speech or feeding problems, difficulty fighting infections, low...
Acute disseminated encephalomyelitis (ADEM) involves a brief but intense attack of inflammation (swelling) in the brain and spinal cord that damages the brain's myelin.
An atrioventricular canal defect, or AV canal, is a combination of several closely associated heart problems that result in a large defect in the center of the heart.
Developmental delays refer to when developmental skills are at a lower level than expected for a child’s age, such as language, motor, cognition, or play.
An ependymoma is a tumor that arises from cells that are found lining the ventricular system (areas of the brain or spinal cord where spinal fluid is found).
A fibrosarcoma is a malignant (cancerous) tumor that originates in the connective fibrous tissue found at the ends of bones of the arm or legs, and then spreads to other...
GM1 gangliosidosis, also called beta-galactosidase-1 deficiency, is a genetic disorder that progressively destroys nerve cells in the brain and spinal cord.
Head injury is a broad term that describes many different types of conditions — ranging from bumps and bruises to concussions, skull fractures, and serious brain injuries.
Hereditary spastic paraplegia (HSP) refers to a group of over 80 different genetic conditions that present with progressive spasticity (muscle tightness) and weakness.
Metachromatic leukodystrophy is a rare genetic condition in which an abnormal accumulation of fat molecules (sulfatides) affects cells in the nervous system.
Myasthenia gravis is an autoimmune disease that causes the muscles, especially in the eyes, mouth, throat, and limbs, to weaken after periods of activity.
Stroke is a general term that is used to describe an injury to the brain caused by either bleeding (referred to as hemorrhagic stroke) or a lack of oxygen due...
Tetralogy of Fallot (TOF) is a serious congenital heart defect where the heart’s anatomy prevents enough oxygen-poor (blue) blood from flowing to the lungs to receive oxygen.
Tetralogy of Fallot (TOF) with pulmonary atresia is a more severe form of TOF, where the heart’s anatomy prevents enough oxygen-poor (blue) blood from flowing to the lungs to receive...
Transposition of the great arteries (TGA) is when the “great” arteries, the aorta and the right ventricle, are reversed in their origins from the heart.
Vasculitis, also called angiitis or arteritis, is an umbrella term for more than a dozen conditions, all of which involve inflammation of the blood vessels.