Abnormal: Not normal. Deviating from the usual structure, position, condition, or behavior. In referring to a growth, abnormal may mean that it is cancerous or premalignant (likely to become cancer ).
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Adrenoleukodystrophy: A rare genetic (inherited) disorder characterized by the breakdown or loss of the myelin sheath surrounding nerve cells in the brain and progressive dysfunction of the adrenal gland. Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath of the nerve fibers in the brain. The myelin sheath is a fatty covering which acts as an electrical insulator.
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Autism : A spectrum of neuropsychiatric disorders characterized by deficits in social interaction and communication, and unusual and repetitive behavior. Some, but not all, people with autism are non-verbal.
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Blindness: Loss of useful sight. Blindness can be temporary or permanent. Damage to any portion of the eye, the optic nerve, or the area of the brain responsible for vision can lead to blindness. There are numerous (actually, innumerable) causes of blindness. The current politically correct terms for blindness include visually handicapped and visually challenged.
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Brain: That part of the central nervous system that is located within the cranium ( skull ). The brain functions as the primary receiver, organizer and distributor of information for the body. It has two (right and left) halves called "hemispheres."
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Chromosome: A visible carrier of the genetic information.
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Chromosomes: The microscopically visible carriers of the genetic material. They are composed of deoxyribonucleic acid (DNA) and proteins and, under a microscope, look like little rods.
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Cleft lip: The presence of one or two vertical fissures (clefts) in the upper lip -- cleft lip can be on one side only ( unilateral ) or on both sides ( bilateral ) -- resulting from failure of the normal process of fusion of the lip to come to completion during embryonic life.
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Cleft palate: An opening in the roof of the mouth (the palate) due to a failure of the palatal shelves to come fully together from either side of the mouth and fuse, as they normally should, during embryonic development.
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Deafness: Deafness is defined by partial or complete hearing loss. Levels of hearing impairment vary from a mild but important loss of sensitivity to a total loss of hearing. Older adults suffer most often from hearing loss. Age-related hearing loss affects 30 to 35 percent of the population between the ages of 65 and 75 years, and 40 percent of the population over the age of 75. The most common cause of hearing loss in children is otitis media, a disorder that affects predominantly infants and young children. A substantial number of hearing impairments are caused by environmental factors such as noise, drugs, and toxins. Many sensorineural hearing losses result from a genetic predisposition.
Down syndrome : A common chromosome disorder due to an extra chromosome number 21 (trisomy 21). Down syndrome causes mental retardation, a characteristic face, and multiple malformations. Down syndrome is a relatively common birth defect. The chromosome abnormality affects both the physical and intellectual development of the individual.
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Fragile X syndrome: One of the most common causes of inherited mental retardation and neuropsychiatric disease in human beings, affects as many as one in 2000 males and one in 4000 females. The syndrome is also known as FRAXA (the fragile X chromosome itself) and as the Martin-Bell syndrome. However, the preferred name is fragile X syndrome.
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Gene: The basic biological unit of heredity . A segment of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genes: The basic biological units of heredity . Segments of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genetic: Having to do with genes and genetic information.
Heart: The muscle that pumps blood received from veins into arteries throughout the body. It is positioned in the chest behind the sternum (breastbone; in front of the trachea, esophagus, and aorta; and above the diaphragm muscle that separates the chest and abdominal cavities. The normal heart is about the size of a closed fist, and weighs about 10.5 ounces. It is cone-shaped, with the point of the cone pointing down to the left. Two-thirds of the heart lies in the left side of the chest with the balance in the right chest.
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Hypothyroid: Deficiency of thyroid hormone which is normally made by the thyroid gland which is located in the front of the neck:
Measles : An acute and highly contagious viral disease characterized by fever , runny nose, cough, red eyes, and a spreading skin rash . Measles , also known as rubeola, is a potentially disastrous disease. It can be complicated by ear infections, pneumonia , encephalitis (which can cause convulsions, mental retardation, and even death), the sudden onset of low blood platelet levels with severe bleeding (acute thrombocytopenic purpura), or a chronic brain disease that occurs months to years after an attack of measles (subacute sclerosing panencephalitis).
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Mental retardation: A term used when a person has certain limitations in mental functioning and in skills such as communicating, taking care of him or herself, and social skills. These limitations will cause a child to learn and develop more slowly than a typical child. Children with mental retardation may take longer to learn to speak, walk, and take care of their personal needs such as dressing or eating. They are likely to have trouble learning in school. They will learn, but it will take them longer. There may be some things they cannot learn. As many as 3 out of every 100 people have mental retardation. In fact, 1 out of every 10 children who need special education has some form of mental retardation.
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Metabolic: Relating to metabolism, the whole range of biochemical processes that occur within us (or any living organism). Metabolism consists of anabolism (the buildup of substances) and catabolism (the breakdown of substances).
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Muscular: Having to do with the muscles. Also, endowed with above average muscle development. Muscular system refers to all of the muscles of the body collectively.
Muscular dystrophy: One of a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal or voluntary muscles which control movement. The muscles of the heart and some other involuntary muscles are also affected in some forms of muscular dystrophy, and a few forms involve other organs as well.
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Neural: Having to do with nerve cells.
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Palate: The roof of the mouth. The front portion is bony (hard palate), and the back portion is muscular (soft palate).
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Phenylketonuria : The inherited inability to metabolize (process) the essential amino acid phenylalanine due to complete or near-complete deficiency of the enzyme phenylalanine hydroxylase.
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PKU: Short for phenylketonuria. See: Phenylketonuria.
Prader-Willi syndrome: A syndrome characterized by severe hypotonia (floppiness), poor suck and feeding problems in early infancy followed later in infancy by excessive eating that, if unchecked, leads gradually to huge obesity. All children with Prader-Willi syndrome (PWS) show developmental delay and mild-to-moderate mental retardation with multiple learning disabilities. Hypogonadism is present in both females (with small labia minora and clitoris) and males (with underdeveloped scrotum and nondescent of the testes). Short stature and small hands and feet are common.
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Pregnancy : The state of carrying a developing embryo or fetus within the female body. This condition can be indicated by positive results on an over-the-counter urine test, and confirmed through a blood test, ultrasound, detection of fetal heartbeat, or an X-ray. Pregnancy lasts for about nine months, measured from the date of the woman's last menstrual period (LMP). It is conventionally divided into three trimesters, each roughly three months long.
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Pregnant: The state of carrying a developing fetus within the body.
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Rett syndrome: An X-linked dominant neurological disorder that affects girls only and is one of the most common causes of mental retardation in females. Girls with the syndrome show normal development during the first 6-18 months of life followed first by a period of stagnation and then by rapid regression in motor and language skills. The hallmark of Rett syndrome is the loss of purposeful hand use and its replacement with stereotyped hand-wringing. Screaming fits and inconsolable crying are common.
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Sensory: Relating to sensation , to the perception of a stimulus and the voyage made by incoming ( afferent ) nerve impulses from the sense organs to the nerve centers.
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Spina bifida: A birth defect (a congenital malformation) in which there is a bony defect in the vertebral column so that part of the spinal cord, which is normally protected within the vertebral column, is exposed. People with spina bifida can suffer from bladder and bowel incontinence , cognitive (learning) problems and limited mobility.
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Spinal cord: The major column of nerve tissue that is connected to the brain and lies within the vertebral canal and from which the spinal nerves emerge. Thirty-one pairs of spinal nerves originate in the spinal cord: 8 cervical , 12 thoracic , 5 lumbar, 5 sacral, and 1 coccygeal. The spinal cord and the brain constitute the central nervous system ( CNS ). The spinal cord consists of nerve fibers that transmit impulses to and from the brain. Like the brain, the spinal cord is covered by three connective-tissue envelopes called the meninges . The space between the outer and middle envelopes is filled with cerebrospinal fluid ( CSF ), a clear colorless fluid that cushions the spinal cord against jarring shock. Also known simply as the cord.
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Syndrome: A set of signs and symptoms that tend to occur together and which reflect the presence of a particular disease or an increased chance of developing a particular disease.
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X-linked: On the X chromosome. "Linked" in genetics does not mean merely associated. An X-linked gene travels with the X chromosome and therefore is part of the X chromosome.
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