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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Alcohol: An organic chemical in which one or more hydroxyl (OH) groups are attached to carbon (C) atoms in place of hydrogen (H) atoms. Common alcohols include ethyl alcohol or ethanol (found in alcoholic beverages), methyl alcohol or methanol (can cause blindness) and propyl alcohol or propanol (used as a solvent and antiseptic ). Rubbing alcohol is a mixture of acetone , methyl isobutyl ketone, and ethyl alcohol. In everyday talk, alcohol usually refers to ethanol as, for example, in wine, beer, and liquor. It can cause changes in behavior and be addictive.
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Arm: 1. In popular usage, the appendage that extends from the shoulder to the hand. However, the medical definition refers to the upper extremity extending from the shoulder only to the elbow, excluding the forearm, which extends from the elbow to the wrist. The arm contains one bone: the humerus. 2. In a randomized clinical trial, any of the treatment groups. Most randomized trials have two "arms," but some have three "arms," or even more.
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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Cat cry syndrome: A disorder caused by the loss of part of the short (p) arm from chromosome 5. Also called the cri du chat (or cri-du-chat) syndrome.
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Childhood: (1) The time for a boy or girl from birth until he or she is an adult. (2) The more circumscribed period of time from infancy to the onset of puberty .
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Chromosome: A visible carrier of the genetic information.
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Condition: The term "condition" has a number of biomedical meanings including the following: - An unhealthy state, such as in "this is a progressive condition."
- A state of fitness, such as "getting into condition."
- Something that is essential to the occurrence of something else; essentially a "precondition."
- As a verb: to cause a change in something so that a response that was previously associated with a certain stimulus becomes associated with another stimulus; to condition a person, as in behavioral conditioning.
Congenital: Present at birth. A condition that is congenital is one that is present at birth. There are numerous uses of "congenital" in medicine. There are, for example, congenital abnormalities. (For more examples, see below.)
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Cranial: 1. Pertaining to the cranium or skull. 2. Toward the head. As opposed to caudad. The eye is cranial to the jaw. For a more complete listing of terms used in medicine for spatial orientation, please see the entry to "Anatomic Orientation Terms".
Craniosynostosis: Premature fusion of the cranial sutures (the fibrous joints between the bones of the skull ) in an infant, preventing normal growth of the baby's head. Craniosynostosis involving some but not all of the sutures causes an abnormally shaped skull. Premature closure of all of the sutures results in microcephaly (an abnormally small head) which arrests the normal growth and development of the baby's brain and may result in developmental delay and mental retardation . Early detection of the condition is therefore of great importance. Treatment is surgery designed to keep the sutures open.
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Deletion: Loss of a segment of DNA from a chromosome (and hence from the genome ).
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Developmental delay: Behind schedule in reaching milestones of early childhood development.
Fetal alcohol syndrome: The sum total of the damage done to the child before birth as a result of the mother drinking alcohol during pregnancy. Fetal alcohol syndrome (FAS) always involves brain damage, impaired growth, and head and face abnormalities.
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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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Genetic: Having to do with genes and genetic information.
Gestation: Period of time from conception to birth.
Intrauterine: In the uterus (the womb). As opposed to extrauterine: outside the uterus.
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Maternal: 1. Pertaining to the mother as, for example, the maternal mortality rate. 2. Related through the mother as, for example, the maternal grandparents. 3. Inherited from the mother as, for example, the maternal X chromosome.
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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Micro-: Prefix derived from the Greek "mikros" meaning small. Examples of the many biomedical terms containing "micro-" include the following: microangiopathy ,
microcephaly ,
microcystic (as in microcystic corneal dystrophy ),
microhematuria ,
microorchidism ,
micropenis ,
microphallus ,
micropigmentation ,
microscope ,
microscopy (as in electron microscopy ), and
microsomia .
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Microcephaly: An abnormally small head due to failure of brain growth. In precise terms, microcephaly is a head circumference that is more than 2 standard deviations below the normal mean for age, sex, race, and gestation . (Some authorities define microcephaly as more than 3 standard deviations below the mean.)
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Miller-Dieker syndrome: A congenital malformation syndrome characterized by lissencephaly ("smooth brain") and a characteristic facial appearance with a prominent forehead with bitemporal hollowing, short nose with upturned nares, thickened upper lip with a thin vermilion upper border, widely spaced eyes, low ears, and small jaw. Associated features include mental retardation, epilepsy, pre- and postnatal growth retardation, and reduced life span. There may also be multiple abnormalities of the brain, kidneys, heart, and gastrointestinal tract.
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Motor: In medicine, having to do with the movement of a part of the body. Something that produces motion or refers to motion. For example, a motor neuron is a nerve cell that conveys an impulse to a muscle causing it to contract. The term "motor" today is also applied to a nerve that signals a gland to secrete. Motor is as opposed to sensory.
Operation: Although there are many meanings to the word "operation", in medicine it refers to a surgical procedure.
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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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Prognosis: 1. The expected course of a disease .
2. The patient's chance of recovery.
The prognosis predicts the outcome of a disease and therefore the future for the patient . His prognosis is grim, for example, while hers is good.
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Quadriplegia: Paralysis of all four limbs, both arms and both legs, as from a high spinal cord accident or stroke.
Race: An ethnic stock or division of humans. Naturalists and ethnographers have long divided humans into a variable number of distinct races. However, DNA and other genetic studies have revealed that that most genetic variation, about 94%, is within so-called racial groups while these racial groupings differ from one another only in about 6% of their genes. This means that there is greater genetic variation within racial groups than between them. The concept of race is a superficial and subjective one. All of humankind is a single species.
Radiation: 1. Rays of energy. Gamma rays and X-rays are two of the types of energy waves often used in medicine. 2. The use of energy waves to diagnose or treat disease. See also: Irradiation.
Range: In medicine and statistics, the difference between the lowest and highest numerical values. For example, if five premature infants are born weighing two, three, four, four, and five pounds respectively, the range of their birth weights is two to five pounds.
Seckel syndrome: A birth defect syndrome with severe short stature and, characteristically, low birth weight, very small head ( microcephaly ), receding forehead, large eyes, low ears, prominent beaklike protrusion of the nose, and smallish chin. Defects of bones in the arms and legs, dislocations of the elbow and hip, and inability to straighten the knees are all common as is (in boys) failure of the testes to descend into the scrotum (cryptorchidism). Underproduction of all types of blood cells (pancytopenia) occurs in some patients, as does chromosome instability.
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Skull: The skull is a collection of bones which encase the brain and give form to the head and face. The bones of the skull include the following: the frontal, parietal, occipital, temporal, sphenoid, ethmoid, zygomatic, maxilla, nasal, vomer, palatine, inferior concha, and mandible.
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Smith-Lemli-Opitz syndrome: A multiple congenital malformation syndrome caused by an abnormality in cholesterol metabolism, deficiency of the enzyme 7-dehydrocholesterol reductase (DHCR7), due to mutation of the DHCR7 gene on chromosome 11.
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Surgery: The word "surgery" has multiple meanings. It is the branch of medicine concerned with diseases and conditions which require or are amenable to operative procedures. Surgery is the work done by a surgeon. By analogy, the work of an editor wielding his pen as a scalpel is s form of surgery. A surgery in England (and some other countries) is a physician's or dentist's office.
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Symptomatic: 1 With symptoms, as a symptomatic infection. 2 Characteristic, as behavior symptomatic of Huntington disease. 3 Directed at the symptoms, as symptomatic treatment.
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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Trisomy: The presence of three copies of a chromosome rather than the normal two. The most common trisomies in newborns are trisomy 13 ( Patau syndrome ), trisomy 18 syndrome ( Edwards syndrome ) and trisomy 21 ( Down syndrome ). The most common trisomy among spontaneous abortions is trisomy 16.
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Tumor: An abnormal mass of tissue. Tumors are a classic sign of inflammation, and can be benign or malignant (cancerous). There are dozens of different types of tumors. Their names usually reflect the kind of tissue they arise in, and may also tell you something about their shape or how they grow. For example, a medulloblastoma is a tumor that arises from embryonic cells (a blastoma) in the inner part of the brain (the medulla). Diagnosis depends on the type and location of the tumor. Tumor marker tests and imaging may be used; some tumors can be seen (for example, tumors on the exterior of the skin) or felt (palpated with the hands).
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Wilms tumor: A cancer of the kidney and one of the most important malignancies in childhood, due to loss or inactivation of a tumor suppressor gene called WT1 on chromosome 11. Tumor suppressor genes usually suppress the growth of tumors and control cell growth.
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Wolf-Hirschhorn syndrome: Abbreviated WHS. A chromosome disorder due to partial deletion of the short (p) arm of chromosome 4. It is therefore also called the 4p- syndrome.
See the entire definition of Wolf-Hirschhorn syndrome
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From the Doctors at MedicineNet.com  |
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- Pregnancy Planning - The goals of pregnancy planning are to create a healthy environment for the fetus and to prevent birth defects and other pregnancy related problems. Source:MedicineNet
- Fetal Alcohol Syndrome - Get the facts on fetal alcohol syndrome (FAS) causes, characteristics and facial features and diagnosis. Consumption of alcohol during pregnancy may cause this birth defect. Source:MedicineNet
- Cerebral Palsy - Learn about cerebral palsy, a condition that occurs due to brain injury to the fetus or child during or after birth. Symptoms include seizures, irritability, jitteriness, feeding and respiratory problems and lethargy. Source:MedicineNet
- Read 67 more Microcephaly related articles ...
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