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FGFR2
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).
RELATED TERMS--------------------------------------
Mutation
A change in DNA that alters a gene and thus the gene's product, leading in some cases to deformity or disease. Mutations can occur spontaneously during cell division or can be triggered by environmental stresses, such as sunlight, radiation, and chemicals.
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.
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.
Chromosome
A structural unit within a eukaryotic nucleus that carries genes. A chromosome consists of a long, continuous strand of DNA and associated proteins.
Acrocephalosyndactyly
An inherited disorder causing abnormalities of the skull and face and the hands and feet. In acrocephalosyndactyly there is closure too-early of some of the sutures of the skull (craniosynostosis). This results in an abnormally shaped head, which is unusually tall and peaked, 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 to correct the abnormalities of the skull, face, hands and feet. Acrocephalosyndactyly is an autosomal dominant trait with boys and girls affected equally. A affected parent can have transmit the gene for the disorder or both parents can be normal with the disorder appearing in the child due to a new mutation. The best-known type of acrocephalosyndactyly is Apert syndrome which is due to a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10. 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). All are dominant traits.
Syndrome
A grouping of signs and symptoms, based on their frequent co-occurrence, that may suggest a common underlying pathogenesis, course, familial pattern, or treatment selection.
Skull
The bony framework of the head.
Feet
The plural of foot, both an anatomic structure and a unit of measure. As an anatomic structure, the foot is the end of the leg on which a person normally stands and walks. The foot is a particularly complex structure made up of dozens of bones that work together with muscles and tendons to execute precise movements. The bones of the foot include the 10 metatarsal bones and the 28 phalanges (toe bones).
Premature
The term used to describe babies born before 37 weeks of gestation. Fewer than 10 percent of babies arrive this early.
Fusion
The union and integration of the instincts and drives so that they complement each other and help the organism to deal effectively with both internal needs and external demands.
Surgery
Treating diseases or other medical conditions by operating on a patient to remove or repair parts of the body.
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).
Genetic
Hereditary. Having to do with the genes.
Foot
The distal portion of the leg, upon which an individual stands and walks. It consists, in man, of the tarsus, metatarsus, and phalanges and the tissues encompassing them.
SIMILAR TERMS--------------------------------------
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.
PREVIOUS AND NEXT TERMS--------------------------------------
Fever, Wolhynia
Also known as trench fever, a disease borne by body lice that was first recognized in the trenches of World War I, when it is estimated to have affected more than a million people in Russia and on the fronts in Europe.
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
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.
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.
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