|
| | |
Fibroblast growth factor receptor 2
Fibroblast growth factor receptor 2 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). All are inherited as dominant traits.
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.
Dominant
A genetic trait is considered dominant if it is expressed in a person who has only one copy of that gene. (In genetic terms, a dominant trait is one that is phenotypically expressed in heterozygotes). A dominant trait is opposed to a recessive trait which is expressed only when two copies of the gene are present. (In genetic terms, a recessive trait is one that is phenotypically expressed only in homozygotes).
SIMILAR TERMS--------------------------------------
Fibrates for lowering cholesterol
Fibrates are cholesterol-lowering drugs that are primarily effective in lowering triglycerides and, to a lesser extent, in increasing HDL-cholesterol levels.
Fibril
The diminutive of fiber. A small fiber, a fine thread.
Fibrillation
Rapid contractions of the heart muscles.
Fibrillation, atrial
An abnormal irregular heart rhythm whereby electrical signals are generated chaotically throughout the upper chambers (atria) of the heart. Although many persons with atrial fibrillation have no symptoms, the most common symptom is palpitations, an uncomfortable awareness of the rapid and irregular heartbeat. Atrial fibrillation can cause blood clots that travel from the heart to the brain, causing stroke. Treatment of atrial fibrillation involves controlling the risk factors, medications to slow the heart rate and/or convert the heart to normal rhythm, and preventing complications of blood clotting.
Fibrillation, auricular
Essentially the same as atrial fibrillation.
Fibrillation, ventricular
An abnormal irregular heart rhythm whereby there are very rapid uncoordinated fluttering contractions of the lower chambers (ventricles) of the heart. Ventricular fibrillation disrupts the synchrony between the heartbeat and the pulse beat. Ventricular fibrillation is commonly associated with heart attacks or scarring of the heart muscle from previous heart attack. Ventricular fibrillation is life threatening.
Fibrin
A filamentous protein formed from the precursor fibrinogen by the enzyme thrombin.
Fibrinogen
The protein from which is generated fibrin, the essence of a normal blood clot.
Fibroadenoma
Noncancerous, firm, rubbery lump in the breast that is painless and moves around easily when touched.
Fibroblast
A connective tissue cell.
Fibrocystic breasts
Noncancerous condition in which small lumps and cysts develop in the breasts.
Fibrodysplasia ossificans progressiva (FOP)
A rare but dramatic genetic disorder that turns muscles, tendons and ligaments into bone, threatening to transform the victim into "a statue of stone." FOP is characterized by physical handicap due to bone forming in the wrong places and malformed big toes which often contain only one bone. Other features of FOP can include short thumbs, fifth finger clinodactyly (pinkie curved toward the thumb), malformed cervical (neck) vertebrae, short broad neck of the femur (thighbone), deafness, scalp baldness, and mild mental retardation.
Fibroid
A noncancerous tumor of the uterus composed of muscle fibers. Also called uterine myoma.
Fibroids
Noncancerous growths in, on, or within the walls of the uterus that develop from muscle cells in the wall of the uterus.
Fibroma
A mass composed of fibrous tissue or connective tissue. Also called a fibroid tumor or fibroid.
Fibroma, cemento-ossifying
A hard fibrous lesion that continues to grow, sometimes to very large size, unless treated, most frequently seen in the jaw or mouth, sometimes in connection with a fracture or another type of injury. Treatment is by surgery. Abbreviated COF.
Fibroma, desmoplastic
A rare type of primary bone tumor characteristically composed of well-differentiated cells that produce collagen. Desmoplastic fibromas are discovered most often in the first three decades of life, in the mandible (the femur and pelvis are also favored sites). Although benign, these tumors are locally infiltrative and may cause pain and swelling or an effusion (if near a joint). Treatment is surgical removal but the tumor may recur.
Fibroma, nonossifying
A growing lesion with a fibroma structure. Treatment is by surgery.
Fibromyalgia
Fibromyalgia is a debilitating chronic syndrome (constellation of signs and symptoms) characterized by diffuse pain, fatigue, and a wide range of other symptoms. It is not contagious, and recent studies suggest that people with fibromyalgia may be genetically predispose. It affects more women than men, with a ratio globally of 3-5:1. Fibromyalgia is seen in 3-10% of the general population, and is mostly found between the ages 20 and 50.
Fibrosarcoma
A malignant tumor that begins in fibrous connective tissue at the ends of the arm or leg bones and may spread to surrounding soft tissue. Fibrosarcoma is the most common soft tissue sarcoma found in children under one year of age. It presents as a rapidly growing mass at birth or early infancy. Fibrosarcoma can also occur in older children and adults. The symptoms may include a lump, soreness, pain, or a limp (if the tumor is in the leg).
Fibrosis
The presence of scar tissue or collagen fibers in any tissue. In the liver, fibrosis or scarring of the liver damages the architecture and thus the functionality of the organ. Fibrosis, combined with the liver’s ability to regenerate, causes cirrhosis (regeneration within the scar tissue).
Fibrosis, cystic
One of the most common grave genetic (inherited) diseases, CF affects the exocrine glands and is characterized by the production of abnormal secretions, leading to mucous build-up.
Fibrosis, radiation
Scarring of the lungs from radiation. Radiation fibrosis is a sequel of radiation pneumonitis (inflammation of the lungs due to radiation), as from radiation therapy. Radiation pneumonitis typically occurs after radiation treatments for cancer within the chest or breast and usually manifests itself 2 weeks to 6 months after completion of radiation therapy. Symptoms include shortness of breath upon activity, cough and fever. Radiation pneumonitis frequently is discovered as an incidental finding on chest x-ray in patients who have no symptoms.
Fibrositis
Inflammation of fibrous connective tissues in muscles. It often affects the muscles of the trunk and back. It may be a symptom of another disease, such as Sciatica, but in most cases the cause is unknown. Pain and stiffness.
Fibrous dysplasia, monostotic
Excessive growth of hard fibrous tissue that replaces normal bone tissue in a single bone. Symptoms may include pain and fracture of the bone. Most cases are diagnosed in adolescence and young adulthood and remain unchanged throughout life. The prognosis (outlook) is usually very good.
Fibrous dysplasia, polyostotic
A genetic disorder of bones, skin pigmentation and hormonal problems with premature sexual development. Also called McCune-Albright syndrome or the Albright syndrome. In the syndrome, there is bone disease with fractures and deformity of the legs, arms and skull; pigment patches of the skin; and endocrine (hormonal) disease with early puberty (early menstrual bleeding, development of breasts and pubic hair) and an increased rate of growth. Polyostotic fibrous dysplasia is usually caused by mosaicism for a mutation in a gene called GNAS1 (Guanine Nucleotide binding protein, Alpha Stimulating activity polypeptide 1).
Fibrous tissue
Tissue consisting of or containing fibers.
PREVIOUS AND NEXT TERMS--------------------------------------
Fibril
The diminutive of fiber. A small fiber, a fine thread.
Fibrillation, atrial
An abnormal irregular heart rhythm whereby electrical signals are generated chaotically throughout the upper chambers (atria) of the heart. Although many persons with atrial fibrillation have no symptoms, the most common symptom is palpitations, an uncomfortable awareness of the rapid and irregular heartbeat. Atrial fibrillation can cause blood clots that travel from the heart to the brain, causing stroke. Treatment of atrial fibrillation involves controlling the risk factors, medications to slow the heart rate and/or convert the heart to normal rhythm, and preventing complications of blood clotting.
Fibrillation, auricular
Essentially the same as atrial fibrillation.
Fibrillation, ventricular
An abnormal irregular heart rhythm whereby there are very rapid uncoordinated fluttering contractions of the lower chambers (ventricles) of the heart. Ventricular fibrillation disrupts the synchrony between the heartbeat and the pulse beat. Ventricular fibrillation is commonly associated with heart attacks or scarring of the heart muscle from previous heart attack. Ventricular fibrillation is life threatening.
Fibrinogen
The protein from which is generated fibrin, the essence of a normal blood clot.
Fibroblast growth factor receptor 2
Fibrodysplasia ossificans progressiva (FOP)
A rare but dramatic genetic disorder that turns muscles, tendons and ligaments into bone, threatening to transform the victim into "a statue of stone." FOP is characterized by physical handicap due to bone forming in the wrong places and malformed big toes which often contain only one bone. Other features of FOP can include short thumbs, fifth finger clinodactyly (pinkie curved toward the thumb), malformed cervical (neck) vertebrae, short broad neck of the femur (thighbone), deafness, scalp baldness, and mild mental retardation.
Fibroma
A mass composed of fibrous tissue or connective tissue. Also called a fibroid tumor or fibroid.
Fibroma, cemento-ossifying
A hard fibrous lesion that continues to grow, sometimes to very large size, unless treated, most frequently seen in the jaw or mouth, sometimes in connection with a fracture or another type of injury. Treatment is by surgery. Abbreviated COF.
Fibroma, desmoplastic
A rare type of primary bone tumor characteristically composed of well-differentiated cells that produce collagen. Desmoplastic fibromas are discovered most often in the first three decades of life, in the mandible (the femur and pelvis are also favored sites). Although benign, these tumors are locally infiltrative and may cause pain and swelling or an effusion (if near a joint). Treatment is surgical removal but the tumor may recur.
Fibroma, nonossifying
A growing lesion with a fibroma structure. Treatment is by surgery.
We thank you for using the Health Dictionary to search for Fibroblast growth factor receptor 2. If you have a better definition for Fibroblast growth factor receptor 2 than the one presented here, please let us know by making use of the suggest a term option. This definition of Fibroblast growth factor receptor 2 may be disputed by other professionals. Our attempt is to provide easy definitions on Fibroblast growth factor receptor 2 and any other medical topic for the public at large.This dictionary contains 25007 terms. |
|
|
