Bert's Big Adventure : Definitions

DEFINITION: ALL is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). ALL is a cancer of the blood and bone marrow. It is the most common type of cancer in children. Normally, the bone marrow produces stem cells (immature cells) that develop into mature blood cells. With ALL, the lymphocytes are not able to fight infection very well. Also, as the number of lymphocytes increases in the blood and bone marrow, there is less room for healthy white blood cells, red blood cells, and platelets. This may lead to infection, anemia, and easy bleeding.

ALL is responsible for 80% of the acute leukemias of childhood, with the peak incidence occurring between ages 3 and 7.

DEFINITION: Childhood acute myeloid leukemia (AML) is a type of cancer in which the bone marrow rapidly makes a large number of abnormal blood cells. This type of cancer usually gets worse if it is not treated quickly. AML is also called acute myelogenous leukemia, acute myeloblastic leukemia, acute granulocytic leukemia, or acute nonlymphocytic leukemia. AML is more commonly found in adults; AML in children is relatively rare.

DEFINITION: Amblyopia is reduced vision in an eye that has not received adequate use during early childhood. Amblyopia, also known as “lazy eye” most of the time results from either a misalignment of a child’s eyes, such as as crossed eyes, or a difference in image quality between the two eyes. In both cases, one eye becomes stronger, suppressing the image of the other eye. If the condition persist, the weaker eye may become useless.

DEFINITION: Arthrogryposis Multiplex Congenita is a rare congenital disorder that is characterized by reduced mobility in the joints. Impairment of mobility is due to the overgrowth of fibrous tissue in the joints. In its most common form, the range of motion of the joints in the arms and legs is limited or fixed. Arthrogryposis is rare, occurring in about 1 in 3,000 births.

BEAL'S SYNDROME

DEFINITION: Beal's Syndrome is a genetic disorder similar to Marfan's Syndrome. Individuals with Beal's syndrome tend to be tall in stature with thin, gangly bodies, disproportionately long arms and legs, and narrow, elongated fingers. Many Beal's patients have moderate to severe scoliosis, or curvature of the spine, as well as joint problems and chest deformities.

DEFINITION: Bilateral longitudinal tibia deficiency is marked in children with shortening and bowing of the involved leg. The foot is also normally deformed with shortening of the metatarsals.

DEFINITION: Childhood brainstem glioma is a disease in which cancerous or malignant cells form a tumor in the tissues of the brainstem. The brainstem is the part of the brain connected to the spinal cord, and is located in the lowest part of the brain just above the back of the neck.

DEFINITION: An aggressive and fast-growing type of acute lymphocytic leukemia, Burkitt's leukemia is the least common type of leukemia in children, occurring in just 2-3% of all leukemia cases.

DEFINITION: Cerebral palsy (CP) is a group of motor problems and physical disorders that result from a brain injury or abnormal brain development that may occur during fetal growth, at the time of birth, or within the first 2 or 3 years of a child's life. Although permanent, the brain abnormality does not get worse over time. CP affects the muscles of a part or side of the body, sometimes the entire body. Uncontrolled reflex movements and muscle tightness (spasticity) occur with varying severity.

Everyone with CP has problems with body movement and posture, although the degree of physical disability varies. Some people with CP have only a slight limp or an uncoordinated walk. Others have little or no control over their arms and legs or other parts of their body, such as their mouths and tongues. People with severe forms of CP are more likely to have other problems, such as seizures or mental retardation.

DEFINITION: Chronic lung disease (CLD) is a general term for long-term respiratory problems in premature babies. It is also known as bronchopulmonary dysplasia (BPD). CLD results from lung injury to newborns who must use a mechanical ventilator and extra oxygen for breathing. The lungs of premature babies are fragile and are easily damaged. With injury, the tissues inside the lungs become inflamed and can break down causing scarring. This scarring can result in difficulty breathing and increased oxygen needs.

DEFINITION: Muscular dystrophy (MD) is a group of inherited diseases in which the muscles that control movement (called voluntary muscles) progressively weaken. In some forms of this disease, the heart and other organs are also affected. Congenital means present at birth. Congenital muscular dystrophies progress slowly and affect males and females. The two forms that have been identified Fukuyama and congenital muscular dystrophy with myosin deficiency causes muscle weakness at birth or in the first few months of life, along with severe and early contractures (shortening or shrinking of muscles that causes joint problems). Fukuyama congenital muscular dystrophy causes abnormalities in the brain and often seizures.

DEFINITION: A craniopharyngioma is a tumor that develops in the region of the pituitary gland (the main endocrine gland, which is responsible for producing hormones that control growth and other body functions) near the hypothalamus (the area of the brain that controls body temperature, hunger and thirst). Craniopharyngiomas are the most common extraneural tumors of the central nervous system in children. Although their epicenter is in the suprasellar region, the tumors can reach gigantic size, extending upwards into the third and even lateral ventricles. Some symptoms may include headaches, vomiting, fatigue, changes in personality, visual defects, delayed puberty and other growth characteristics.

DEFINITION: Cystic Fibrosis is an inherited disease that affects chloride channels in the body and causes respiratory and digestive problems. CF affects the mucus and sweat glands of the body and is caused by a defective gene. Thick mucus is formed in the breathing passages of the lungs and this predisposes the person to chronic lung infections.

DEFINITION: Diabetes is a metabolic condition where either not enough insulin is made, or the insulin that is made doesn't work well enough. Dietary nutrients are broken down into sugar (glucose), which circulates in the blood. With the help of insulin, the glucose is then absorbed by the cells of the body for energy. Insulin also helps the body maintain fat and muscle stores. In the absence of insulin, blood sugar levels are high but the cells of the body are starving, due to an inability to absorb the sugar; weight loss and illness occur unless insulin is provided.

DEFINITION: People with Down syndrome have an extra or irregular chromosome in some or all of their body's cells. The chromosomal abnormalities impair physical and mental development. Most people with Down syndrome have distinctive physical features and mild to moderate below-normal intelligence. The extra or irregular chromosomes related to Down syndrome result from abnormal cell division in the egg before or after it is fertilized by sperm. Less often, the abnormal cell division occurs in sprrm before conception. It is not known why the cells divide abnormally.

Signs of Down syndrome usually appear at birth or shortly thereafter. Many children with the condition have a flat face, small ears and mouth, and broad hands and feet, although these features vary from person to person. Most young children have a lack of muscle tone (hypotonia), which generally improves by late childhood. Often developmental disabilities result from the combination of a lower intelligence level and physical limitations related to Down syndrome. Hear defects, intestinal abnormalities, and irregular ear and respiratory tract structures can also occur and cause additional symptoms or lead to complications.

DEFINITION: Dubowitz Syndrome is a very rare genetic and developmental disorder involving multiple congenital (inherited) anomalies including, but not limited to: growth failure/short stature; unusual but characteristic facial features; a small head; mild mental retardation; and in at least 50% of the cases, eczema. Multiple organ systems are affected and the disorder is unpredictable and extremely variable in its expression.

Symptoms may be detected while the fetus is still in the uterus as well as immediately after birth. Facial appearance is a key in the diagnosis, with characteristic high or sloping forehead; sparse hair; flat, undeveloped bones above the eyes; increased distance between the eyes; drooping eyelids; sparse lateral eyebrows; very small lower jaw and receding chin. Affected children are often hyperactive, stubborn, and shy.

DEFINITION: Muscular Dystrophy refers to any group of muscle diseases in which there is a recognizable pattern of inheritance. They are marked by weakness and wasting of selected muscles. The affected muscle fibers degenerate and are replaced by fatty tissue. The dystrophies are classified according to the patient's age at onset, distribution of the weakness, progression of the disease, and mode of inheritance. The most common form is Duchenne dystrophy, which is inherited as a sex-linked recessive gene and is nearly always restricted to boys. It usually begins before the age of four, with weakness and wasting of the muscles of the pelvis and back.

DEFINITION: The ectodermal dysplasia syndromes, (abbreviated ED), are a group of genetic disorders which are identified by the absence or deficient function of at least two derivatives of the ectoderm. (I.e. teeth, hair, nails, glands). At least 150 different ED have been identified. Charles Darwin identified the first ED syndrome in the 1860s. A hereditary condition characterized by abnormal development of the skin and associated structures (hair, nails and teeth, and sweat glands).

DEFINITION: Encephalopathy literally means "disease of the brain," and it usually alters brain functions or structure. It may be caused by a bacterial or virus infection, or by a brain tumor or lack of oxygen to the brain. Encephalopathy causes common neurological symptoms such as loss of memory and cognitive ability, inability to concentrate, lethargy, or progressive loss of consciousness.

FIBROMYALGIA WITH POLYARTHRITIS

DEFINITION: Fibromyalgia is a chronic condition characterized by widespread pain in your muscles, ligaments and tendons, as well as fatigue and multiple tender points — places on your body where slight pressure causes pain. Polyarthritis is the arthritis wich of this condition which normally includes five or more joints. Some symptoms of this condition includes, widespread pain, fatigue, headaches and facial pain, diarrhea and heightened sensitivity.

DEFINITION: Transportation of the great arteries (TGA) is an abnormality of the heart vessels that is present at birth, causing congenital heart disease. This is a serious heart defect that usually requires open heart surgery for the baby to survive. Ventricular Septal Defect (VSD) describes one or more holes in the muscular wall that separates the right and left ventricles of the heart. Pulmonary Valve Stenosis is a congenital condition in which outflow of the blood from the right ventricle of the heart is obstructed at the level of the pulmonic valve.

DEFINITION: Hydonephrosis is swelling (dialation) of the urine-collecting structures of one or both kidneys due to obstruction of urine flow from the kidney. This can impair kidney function. Hydronephrosis isn’t a specific disease, but a sign of underlying problems. Hydronephrosis may develop suddenly and some symptoms included severe back pain, lower abdomen and groin on the side of the blockage. Urine output usually remains normal as long as one kidney functions properly.

DEFINITION: Hypothyroidism develops when the thyroid gland does not produce enough thyroid hormone, which regulates how the body uses energy. A lack of thyroid hormone affects many body systems.

DEFINITION: Juvenile rheumatoid arthritis (JRA), sometimes called juvenile chronic arthritis, is a childhood disease that causes inflamed, swollen joints that are often stiff and painful. JRA affects about 1 in 1000 children aged 16 and younger.

There are three types of JRA. Each type is based on the number of joints affected during the first 6 months of active disease:

Pauciarticular JRA (also called oligoarthritis) is the most common type, affecting about 60% of all children with JRA. In this type, 1 to 4 joints are affected.
Polyarticular JRA (also called polyarthritis) affects about 30% of children with JRA. Five or more joints are affected in this type.
Systemic JRA affects 10% of children with JRA. It causes whole body symptoms, such as fever and rash, which usually occur before joint symptoms appear. Systemic JRA may affect any number of joints.

DEFINITION: Healthy kidneys clean the blood by filtering out extra water and wastes. They also make hormones that keep your bones strong and blood healthy. When both of your kidneys fail, your body holds fluid. Your blood pressure rises. Harmful wastes build up in your body, which prevents your body from making enough red blood cells as well as you developing fatigue, nausea and loss of appetite.

DEFINITION: Maple Syrup Urine Disease is an extremely rare inherited metabolic disorder characterized by a distinctive sweet odor of the urine and sweat. It is similar to diabetes in that treatment involves careful monitoring of blood chemistry, a special diet, and frequent testing. Symptoms develop due to the body being unable to breakdown three essential amino acids, which are essential to the body to build proteins.

DEFINITION: Marfan Syndrome is an inheritable disorder of connective tissue (which adds strength to the body's structures) that affects the skeletal system, cardiovascular system, eyes, and skin.

Marfan Syndrome is caused by mutations in the gene fibrillin-1, which plays an important role as the scaffolding for elastic tissue in the body. Disruption of such scaffolding thus results in changes in the elastic tissues (the aorta, eye, and skin), or overgrowth of long bones in the body.

DEFINITION: Mitochondria house numerous enzymes that carry out steps essential to metabolism. Defects in mitochondrial assembly or function generally have serious consequences for survival of the cell. In humans, mitochondrial dysfunction is the underlying cause of a wide range of degenerative diseases, with energy-demanding cells such as those of the central nervous and endocrine systems, heart, muscle, and kidney being most severely affected.

DEFINITION: Moyamoya Syndrome is a progressive disorder that affects the blood vessels in the brain (cerebrovascular). It is characterized by the narrowing (stenosis) and/or closing (occlusion) of the carotid artery, the major artery that delivers blood to the brain. Inadequate blood supply leads to reduced oxygen to the brain, and it is this oxygen deprivation that causes the signs of moyamoya. Those signs most typically include paralysis of the feet, legs or the upper extremities. Headaches, various vision problems, mental retardation, and psychiatric problems may also occur.

DEFINITION: Myotonic Dystrophy is caused by a defective gene, but unlike other forms of dystrophy, the muscle weakness is accompanied by a delayed relaxation of muscles after contraction, along with a variety of muscle abnormalities. The first muscles affected are in the face, neck, hands, feet, and arms.

DEFINITION: Opitz Syndrome is a genetic disorder that affects the development of children, and common elements include poor growth, developmental delay, and a common pattern of congenital malformations such as cleft palate. Children with Opitz Syndrome are also unable to make cholesterol, which can lead to general developmental and health trouble.

DEFINITION: Osteosarcoma is the most common type of bone cancer, and one of the most common types that afflict children. Unlike other types of cancer, osteosarcoma starts in the bones and spreads from there.

DEFINITION: Ovarian germ cell tumors occur when cancer cells form in the egg cells within the ovary. This most often appears in teenage girls and young women, and usually affects just one ovary. The most common type of this tumor is called dysgerminoma.

DEFINITION: A disorder of the peripheral nerves, usually involving the feet, hands, and sometimes the legs, arms, and face. Symptoms may include numbness, tingling, or burning sensations, pain, abnormal reflexes, weakness, and partial paralysis.

DEFINITION: Prune belly syndrome is also known as Triad syndrome or Eagle-Barrett syndrome. It is characterized by a triad of abnormalities that included, absence of abdominal muscles, undescended testicles in newborns and an expanded bladder. Because of the substantial involvement of the urinary tract, children with prune belly syndrome are usually unable to completely empty their bladders and have serious bladder, ureter, and kidney impairment.

DEFINITION: Primary pulmonary hypertension is a rare, progressive disorder characterized by high blood pressure of the main artery of the lungs. The pulmonary artery is the blood vessel that carries blood from the heart through the lungs. Symptoms of primary pulmonary hypertension include shortness of breath, especially during exercise, chest pain, and fainting episodes.

DEFINITION: Quadriplegia is a result of either damage to the brain or spinal cord (from an accident) or from a disease (such as spina bifida or ALS), resulting in partial or total loss of use of all four of their extremities. Quadriplegics have different levels of impairment, ranging from minor problems in using their arms and legs, to total paralysis. Quadriplegics have to make adjustments in their everyday lives to complete seemingly simple tasks, but can experience improvements through time and rehabilitation.

DEFINITION: Retinoblastoma is a malignant tumor (cancer) of the retina (part of the eye) that generally affects children under the age of 6.

DEFINITION: Short bowel syndrome (SBS, also short gut syndrome or simply short gut) is a malabsorption disorder caused by the surgical removal of the small intestine, or rarely due to the complete dysfunction of a large segment of bowel. Most cases are acquired, although some children are born with a congenital short bowel. Symptoms of short gut can included abdominal pain, diarrhea, weight loss and fatigue.

DEFINITION: An inherited, chronic disease in which the red blood cells, normally disc-shaped, become crescent shaped. As a result, they function abnormally and cause small blood clots. These clots give rise to recurrent painful episodes called "sickle cell pain crises". Sickle cell anemia is caused by an abnormal type of hemoglobin (oxygen carrying molecule) called hemoglobin S. It is inherited as an autosomal recessive trait -- that is, it occurs in someone who has inherited hemoglobin S from both parents.

DEFINITION: Spastic Cerebral Palsy results from a disruption in brain development that causes muscle tightness and uncoordinated movement. People with SCP have poor balance and difficulty controlling body movements, especially in the arms and legs. Sometimes the muscles that control talking and eating are also affected.

DEFINITION: Spina bifida is a birth defect in which the bones of the spine (vertebrae) do not form properly around the spinal cord. This can occur anywhere along the spine. Spina bifida is the most common of a group of birth defects called neural tube defects. Spina bifida develops in a fetus early in pregnancy, often before a woman knows she is pregnant.

In the US, about 1 in 2,000 children are born with spina bifida. It is one of the most common birth defects, although the rates have steadily declined in recent years.

There are two main types of spina bifida: spina bifida occulta and spina bifida manifesta. Spina bifida occulta is the mildest and most common form. The spinal defect is hidden under the skin and does not usually cause problems or need treatment. Doctors estimate that 10%-24% of the general population unknowingly have this spinal defect. In some cases, a dimple, depression, birthmark, or hairy patch forms over the skin where more than one vertebrae is affected. This is referred to as occult spinal dysraphism (OSD).

DEFINITION: A group of inherited diseases that cause progressive muscle degeneration and weakness. SMA is the second leading cause of neuromuscular disease.

DEFINITION: Transverse myelitis is a neurological disorder of the spine caused by inflammation across the spinal cord. It is sometimes associated with the term myelopathy, which refers to any disorder of the spinal cord. However, transverse myelitis is a more specific term for inflammation (myelitis) across the width of the spinal cord (transverse) that results in changed function below this level while function remains normal above. Symptoms are related to movement and sensory functions. This disorder occurs in both adults and children, and typically begins with a rather rapid development of symptoms over the course of several hours, days, or weeks. Symptoms may include lower back pain, weakness in the legs and arms, sensory disturbance, spasms leading to gradual paralysis, and bowel or bladder disfunction.

DEFINITION: Wilms’ tumor is a disease in which malignant cancer cells are found in parts of the kidney. Only about 500 cases are diagnosed in the U.S. each year.


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