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FGFR3
FGFR3 Abbreviation for fibroblast growth factor receptor 3. Mutations in the FGFR3 gene are known to cause three different syndromes -- hypochondroplasia, achondroplasia, and thanatophoric dysplasia. These syndromes represent variations in severity. Hypochondroplasia is the mildest and thanatophoric dysplasia (also called thanatophoric dwarfism) is the most severe. In fact, thanatophoric dysplasia is a type of dwarfism in which death usually occurs in the first hours of life. FGF3 is an example of how different syndromes can result from mutations in a single gene.
RELATED TERMS--------------------------------------
Fibroblast
A connective tissue cell.
Receptor
A molecule that recognizes a unique hormone. Once that hormone is bound to the receptor, the information carried by the hormone can now exert its biological action.
FGFR3
Abbreviation for fibroblast growth factor receptor 3. Mutations in the FGFR3 gene are known to cause three different syndromes -- hypochondroplasia, achondroplasia, and thanatophoric dysplasia. These syndromes represent variations in severity. Hypochondroplasia is the mildest and thanatophoric dysplasia (also called thanatophoric dwarfism) is the most severe. In fact, thanatophoric dysplasia is a type of dwarfism in which death usually occurs in the first hours of life. FGF3 is an example of how different syndromes can result from mutations in a single gene.
Gene
1. A unit of DNA that carries information for the biosynthesis of a specific product in the cell. 2. Ultimate unit by which inheritable characteristics are transmitted to succeeding generations in all living organisms. Genes are contained by, and arranged along the length of, the chromosome. The gene is composed of deoxyribonucleic acid (DNA). Each chromosome of each species has a definite number and arrangement of genes, which govern both the structure and metabolic functions of the cells and thus of the entire organism.
Achondroplasia
An inherited form of short-limbed dwarfism.
Dysplasia
An abnormality of growth.
Dwarfism
A deficiency of growth hormone resulting in short stature.
Death
1. The end of life. The cessation of life. (These common definitions of death ultimately depend upon the definition of life, upon which there is no consensus.) 2. The permanent cessation of all vital bodily functions. (This definition depends upon the definition of "vital bodily functions.") See: Vital bodily functions. 3. The common law standard for determining death is the cessation of all vital functions, traditionally demonstrated by "an absence of spontaneous respiratory and cardiac functions." 4. The uniform determination of death.
SIMILAR TERMS--------------------------------------
FGFR2
A mutation (change) in the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10 causes the best-known type of acrocephalosyndactyly, namely Apert syndrome which is characterized by abnormalities of the skull and face and the hands and feet. There is premature closure of some of the sutures of the skull (craniosynostosis) resulting in an abnormally shaped head (which is unusually tall but short from front-to-back) and an abnormally shaped face with shallow eye sockets and underdevelopment of the midface. There is fusion of fingers and toes (syndactyly) and broad ends of the thumbs and big toes. Surgery is often useful with the skull, face, hands and feet. Different mutations in FGFR2 are responsible for two other genetic diseases, namely, Pfeiffer syndrome (another type of acrocephalosyndactyly) and Crouzon syndrome (purely a craniofacial disorder with no hand or foot problems).
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Fever, yellow
An acute systemic (bodywide) illness caused by a virus called a Flavivirus. In severe cases, the viral infection causes a high fever, bleeding into the skin, and necrosis (death) of cells in the kidney and liver. The damage done to the liver from the virus results in severe jaundice which yellows the skin.
Feverfew
An herb that has been most commonly used for migraine headaches.
FFN
Fetal fibronectin. A protein produced during pregnancy and the basis of a test for preterm delivery. Fetal fibronectin (fFN) functions as a "glue" attaching the fetal sac to the uterine lining. The presence of fFN during weeks 22-34 of a high-risk pregnancy, along with symptoms of labor, suggests that the "glue" is disintegrating ahead of schedule and raises the possibility of a preterm delivery. To test fFN, a cotton swab is used (as in a Pap smear) to collect samples of cervico-vaginal secretions. A negative fFN test result is a highly reliable predictor that delivery will not occur within the next 2 weeks. The American College of Obstetricians and Gynecologists (ACOG) does not recommend the test for routine screening, as its use has not been shown to be clinically effective in predicting preterm labor in low-risk, asymptomatic pregnancies. ACOG recommends fFN testing only for symptomatic, high-risk pregnancies, where preterm labor is suspected.
FGD1
The faciodigitogenital dysplasia gene. FGD1 normally plays an essential role in embryonic development. Mutations in FGD1 result in faciodigitogenital dysplasia, which is also called the Aarskog-Scott syndrome.
FGFR2
A mutation (change) in the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10 causes the best-known type of acrocephalosyndactyly, namely Apert syndrome which is characterized by abnormalities of the skull and face and the hands and feet. There is premature closure of some of the sutures of the skull (craniosynostosis) resulting in an abnormally shaped head (which is unusually tall but short from front-to-back) and an abnormally shaped face with shallow eye sockets and underdevelopment of the midface. There is fusion of fingers and toes (syndactyly) and broad ends of the thumbs and big toes. Surgery is often useful with the skull, face, hands and feet. Different mutations in FGFR2 are responsible for two other genetic diseases, namely, Pfeiffer syndrome (another type of acrocephalosyndactyly) and Crouzon syndrome (purely a craniofacial disorder with no hand or foot problems).
FGFR3
Fiber and bowel disorders
High fiber diets help delay the progression of diverticulosis and, at least, reduce the bouts of diverticulitis. In many cases, it helps reduce the symptoms of the Irritable Bowel Syndrome (IBS) (also called spastic colitis, mucus colitis, and nervous colon syndrome.) It is generally accepted that a diet high in fiber is protective, or at least reduces the incidence, of colon polyps and colon cancer.
Fiber and constipation
Insoluble fiber retains water in the colon, resulting in a softer and larger stool. It is used effectively in treating constipation resulting from poor dietary habits. Bran is particularly rich in insoluble fiber.
Fiber and diabetes
Soluble fibers (oat bran, apples, citrus, pears, peas/beans, psyllium, etc.) slow down the digestion of carbohydrates (sugars), which results in better glucose metabolism. Some patients with the adult-onset diabetes may actually be successfully treated with a high-fiber diet alone, and those on insulin, can often reduce their insulin requirements by adhering to a high-fiber diet.
Fiber FISH
A cytogenetic (chromosome) laboratory technique in which FISH (fluorescence in situ hybridization) is done on chromosomes that have been mechanically stretched. Fiber FISH provides a higher resolution of analysis than conventional FISH and yields more precise information as to the localization of a specific DNA probe on the chromosome.
Fiber, elastic
A slender fiber in connective tissue that is rich in the protein elastin and has an elastic quality.
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