The following are health and medical definitions of terms that appear in the Birth Defects article.
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).
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. See the entire definition of Adrenoleukodystrophy
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. See the entire definition of Autism
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.
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."
Chromosome: A visible carrier of the genetic information. See the entire definition of Chromosome
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. See the entire definition of Chromosomes
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. See the entire definition of Cleft lip
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. See the entire definition of Cleft palate
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. See the entire definition of Down syndrome
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. See the entire definition of Fragile X syndrome
Gene: The basic biological unit of heredity. A segment of deoxyribonucleic acid (DNA) needed to contribute to a function. See the entire definition of Gene
Genes: The basic biological units of heredity. Segments of deoxyribonucleic acid (DNA) needed to contribute to a function. See the entire definition of Genes
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. See the entire definition of Heart
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). See the entire definition of Measles
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. See the entire definition of Mental retardation
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). See the entire definition of Metabolic
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. See the entire definition of Muscular dystrophy
Neural: Having to do with nerve cells.
Palate: The roof of the mouth. The front portion is bony (hard palate), and the back portion is muscular (soft palate).
Phenylketonuria: The inherited inability to metabolize (process) the essential amino acid phenylalanine due to complete or near-complete deficiency of the enzyme phenylalanine hydroxylase. See the entire definition of 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. See the entire definition of Prader-Willi syndrome
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. See the entire definition of Pregnancy
Pregnant: The state of carrying a developing fetus within the body. See the entire definition of Pregnant
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. See the entire definition of Rett syndrome
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. See the entire definition of Sensory
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. See the entire definition of Spina bifida
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. See the entire definition of Spinal cord
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. See the entire definition of Syndrome
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.
Alcoholism is a disease that includes alcohol craving and continued drinking despite repeated alcohol-related problems, such as losing a job or getting into trouble with the law.
A miscarriage is any pregnancy that ends spontaneously before the fetus can survive. Miscarriage usually occurs before the 13th week of pregnancy. The cause of a miscarriage cannot always be determined. The most common causes of a miscarriage in the first trimester are collagen vascular disease (lupus), hormonal problems, diabetes, chromosomal abnormalities, and congenital abnormalities of the uterus.
Brain aneurysm (cerebral aneurysm) is caused by microscopic damage to artery walls, infections of the artery walls, tumors, trauma, drug abuse. Symptoms include headache, numbness of the face, dilated pupils, changes in vision, the "worst headache of your life," or a painful stiff neck. Immediate treatment for a brain aneurysm is crucial for patient survival.
Scoliosis causes an abnormal curvature of the spine. When the cause of scoliosis is unknown the disorder is described based on the age when the scoliosis develops (infantile, juvenile, or adolescent idiopathic scoliosis). In functional scoliosis, curvature develops due to a problem somewhere else in the body. With neuromuscular scoliosis, there is a problem when the bones of the spine are formed. Treatment typically involves observation, bracing, and surgery and is dependent upon the severity of the curvature.
Hydrocephalus is an abnormal buildup of cerebrospinal fluid (CSF) in the ventricles of the brain. The fluid is often under increased pressure and can compress and damage the brain. Symptoms of hydrocephalus vary with age, progression of the disease, and individual tolerance to the condition. Hydrocephalus is most often treated by surgery in which a shunt system is inserted.
Toxoplasmosis (toxo) is a parasitic infection that causes flulike symptoms, swollen lymph nodes, and muscle aches and pains that may last from a few days to several weeks. Toxoplasmosis can be contracted by touching the hands to the mouth after gardening, cleaning a cat's litter box, or anything that came into contact with cat feces. Toxoplasmosis can also be contracted by eating raw or partly cooked meat, especially pork or lamb, or touching the hands to the mouth after contact with raw or undercooked meat.
Cerebral palsy (CP) is an abnormality of motor function and postural tone acquired at an early age (even before birth). Cerebral palsy is generally caused by brain trauma. Types of cerebral palsy include: spastic, choreoathetoid, and hypotonic. There is no cure for cerebral palsy, and treatment is generally managing the symptoms of the condition.
Alcohol intake by a pregnant mother may result in fetal alcohol syndrome (FAS) in her child. A child with FAS may be hyperactive and have a low IQ, a small head, a growth lag, short eye openings, flattened cheekbones, a short nose, a smooth, thin upper lip, shortening of the fourth and fifth fingers, and a heart murmur.
Learning disabilities can cause an individual to have trouble learning and using skills such as reading, listening, writing, reading, speaking, reasoning, and performing mathematics. There is no cure for learning disabilities. Parents and teachers working together to properly diagnose learning disabilities can properly plan a course of education. For some, medication may be appropriate as complimentary treatment.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Phenylketonuria (PKU) is a disorder that is inherited. PKU disorder increases the levels of phenylalanine in the blood. Phenylalanine is an amino acid that is obtained through diet, and is found in some artificial sweeteners. Signs and symptoms of PKU may vary from mild to severe. PKU has an autosomal ressesive pattern of inheritance.
A common form of short stature, achondroplasia (dwarfism) is a genetic condition causing a disorder of bone growth. Complications of achondroplasia that need monitoring include (this is not all inclusive) stenosis and compression of the spinal cord, a large opening under the skull, lordosis, kyphosis, spinal stenosis, hydrocephalus, middle ear infections, obesity, and dental crowning. Achondroplasia is caused by mutations of the FGFR3 gene.
Angelman syndrome is a genetic disorder that results from the absence of a functional copy of the UBE3A gene inherited from the mother. Infants with Angelman syndrome often have feeding problems and exhibit noticeable developmental delays by six to 12 months of age. Other symptoms include seizures, hyperactivity, speech impairment, small head size, sleep disorders, and movement and balance disorders. There is no specific treatment or therapy for Angelman syndrome.
Pregnancy planning is important to help prevent exposure of the mother and fetus to potentially harmful medications and substances during the early days, and throughout the pregnancy. Nutritional planning, prevention of birth defects, conditions such as high blood pressure, heart disease, diabetes, and kidney disease need careful monitoring. Gestational diabetes, preeclampsia, and pregnancy induced hypertension are conditions that may arise during pregnancy. Immunizations, inherited disorders, exercise, air travel, intercourse, and birth control are important factors to consider when planning a pregnancy.
Spina bifida is the most common neural tube defect in the United States. There are four types of spina bifida; 1) occulta, 2) closed neural tube defects, 3) meningocele, and 4) myelomeningocele. The cause of spina bifida is not known. Theories include genetic, nutritional, and environmental factors. Lack of folic acid during pregnancy is highly suspected. Symptoms of spina bifida vary from individual to individual. Treatment depends on the type of spina bifida the person suffers.
Microcephaly is a genetic condition where the circumference of the head is smaller than normal due to underdeveloped brain. Microcephaly is caused by genetic abnormalities, or from abuse of alcohol, drugs, infection (for example, German measles or chickenpox), exposure to toxins, or PKU while the mother is pregnant. Symptoms of microcephaly depend upon the severity of the accompanying syndrome. There is not treatment for microcephaly.
Cleft palate and cleft lip are facial and oral defects that occur early in pregnancy. A cleft lip is a split of the two sides of the upper lip, and a cleft palate is a split in the roof of the mouth. Cleft lip the fourth most common birth defect in the U.S. Repair of a cleft palate or cleft lip may require multiple surgeries.
A ventricular septal defect (VSD) is a congenital heart malformation. A VSD is a hole in the wall of the heart's two lower chambers. Approximately, one in 500 infants will be born with a VSD. Treatment depends upon whether the VSD is small or large in size.
Becoming infected with chickenpox during pregnancy could cause birth defects in your unborn child. Likewise, shingles could also cause problems for your unborn child. If you are pregnant and haven't had chickenpox, avoid exposure to infected people. Zostavax, the shingles vaccine, can reduce the incidence of shingles by half. Women should wait at least three months after receiving the vaccine before trying to get pregnant.
Enjoying a healthy diet helps to prevent diseases. A good diet also helps to control celiac disease, diabetes, and high blood pressure and maintain health by preventing loss of bone mass, muscle strength, and vitamin deficiencies.
German measles is a disease that's caused by a virus. Symptoms include rash and fever for two to three days. The MMR (measles, mumps, and rubella) vaccine prevents this disease.
Canavan disease is an inherited genetic disorder that typically causes death before 10 years of age. Signs and symptoms of the disease include developmental delays, loss of muscle tone, enlargement of the head, and severe feeding problems. The disease is most prevalent in the Ashkenazi Jewish population. There is no treatment for the disease.
Poland syndrome is a congenital malformation that affects one side of the body. Characteristics of Poland syndrome include the absence or underdevelopment of the chest muscles on one side of the body and the webbing of the fingers on that same side of the body.
Thallium is a metal that can be found in small amounts in the soil. When thallium enters the environment through coal-burning or smelting, it stays in the air, soil, and water for a long time and doesn't break down. Thallium exposure may come from eating contaminated foods, smoking cigarettes, touching or eating contaminated soil, living near a hazardous-waste site, or breathing workplace air in industries that use thallium.
Choledochal cysts are cysts of the bile ducts. There are several different types of choledochal cysts. These cysts are congenital, however, their cause is not known. Symptoms of choledochal cysts in infants include an enlarged liver and jaundice. In older people, the cysts cause abdominal pain, jaundice, cholangitis, gallstones, and pancreatitis. Treatment for choledochal cysts is surgery.
A branchial cyst is a congenital remnant from embryologic development that appears on the side of the neck. The cyst may develop a sinus or drainage pathway to the surface of the skin. Sometimes, a branchial cyst can become infected. Surgical excision is the treatment of choice.
Taking prescription medications or over-the-counter drugs or supplements should be discussed with your doctor. There are some medications that have been found to cause no problems in pregnancy, however, medications such as Accutane for acne, should never be taken during pregnancy.
Most often, caregivers take care of other adults who are ill or disabled. Less often, caregivers are grandparents raising their grandchildren. The majority of caregivers are middle-aged women. Caregiving can be very stressful, so it's important to recognize when it's putting to much strain on you and to take steps to prevent/relieve stress.
Learning disability is a general term that describes specific kinds of
learning problems. A learning disability can cause a person to have trouble
learning and using certain skills. The skills most often affected are:
reading,
writing,
listening,
speaking,
reasoning, and
doing math.
Learning disabilities (LD) vary from person to person. One person with
learning disabilities may
not have the same kind of learning problems as another person with learning
disabilities. One person may have trouble with reading and writing. Another person with
learning disabilities
may have problems with understanding math. Still another person may have trouble
in each of these areas, as well as with understanding what people are saying.
Researchers think that learning disabilities are caused by differences in how
a person's brain works and how...
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