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Ectrodactyly-polydactyly Syndrome
Ectrodactyly-polydactyly syndrome is a very rare congenital limb malformation syndrome of genetic origin which is characterized a combination of ectrodactyly and polydactyly consisting of underdeveloped/absent central rays of the hands or feet alongside postaxial polydactyly in the same limb that can range from a hypoplastic, bone-devoid extra digit to a fully developed supernumerary digit. It has been described in 4 children from a single sibship in Belgium Belgium, officially the Kingdom of Belgium, is a country in Northwestern Europe. Situated in a coastal lowland region known as the Low Countries, it is bordered by the Netherlands to the north, Germany to the east, Luxembourg to the southeas .... References Rare genetic syndromes Congenital disorders of musculoskeletal system Supernumerary body parts {{Genetic-disorder-stub} ...
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Medical Genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specia ...
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Walking
Walking (also known as ambulation) is one of the main gaits of terrestrial locomotion among legged animals. Walking is typically slower than running and other gaits. Walking is defined as an " inverted pendulum" gait in which the body vaults over the stiff limb or limbs with each step. This applies regardless of the usable number of limbs—even arthropods, with six, eight, or more limbs, walk. In humans, walking has health benefits including improved mental health and reduced risk of cardiovascular disease and death. Difference from running The word ''walk'' is descended from the Old English ''wealcan'' 'to roll'. In humans and other bipeds, walking is generally distinguished from running in that only one foot at a time leaves contact with the ground and there is a period of double-support. In contrast, running begins when both feet are off the ground with each step. This distinction has the status of a formal requirement in competitive walking events. For quadrupedal ...
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Grip Strength
Grip strength is the force applied by the hand to pull on or suspend from objects and is a specific part of hand strength. Optimum-sized objects permit the hand to wrap around a cylindrical shape with a diameter from to . Stair rails are an example of where shape and diameter are critical for proper grip in case of a fall. Another grip strength that has been studied is the grip used when using a hammer or other hand tools. In applications of grip strength, the wrist must be in a neutral position to avoid developing cumulative trauma disorders. Grip strength is a general term also used to refer to the physical strength of an animal and, for athletes, to the muscular power and force that can be generated with the hands. In athletics, grip strength is critical for rock climbers and is an important factor in Strength athletics, strongman competitions and weight training, weight lifting. Grip strength training is also a major feature in martial arts and can be useful in various profes ...
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Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication ( translesion synthesis). Mutations may also result from substitution, insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics ( phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutati ...
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Ectrodactyly
Ectrodactyly, split hand, or cleft hand () involves the deficiency or absence of one or more central Digit (anatomy), digits of the hand or foot and is also known as split hand/split foot malformation (SHFM). The hands and feet of people with ectrodactyly (ectrodactyls) are often described as "claw-like" and may include only the thumb and one finger (usually either the little finger, ring finger, or a syndactyly of the two) with similar abnormalities of the feet. It is a substantial rare form of a congenital disorder in which the development of the hand is disturbed. It is a type I failure of formation – longitudinal arrest. The central ray of the hand is affected and usually appears without proximal deficiencies of nerves, vessels, tendons, muscles and bones in contrast to the radial and ulnar deficiencies. The cleft hand appears as a V-shaped cleft situated in the centre of the hand. The digits at the borders of the cleft might be syndactilyzed, and one or more digits can be ...
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Polydactyly
Polydactyly is a birth defect that results in extra fingers or toes. The hands are more commonly involved than the feet. Extra fingers may be painful, affect self-esteem, or result in clumsiness. It is associated with at least 39 genetic mutations. It may either present alone or with other defects. Cases may run in families. The underlying mechanism involves an error in limb bud formation during early development. Diagnosis may occur before birth via prenatal ultrasound as early as nine weeks. X-rays may be useful after a child is a year old. The opposite is oligodactyly (fewer fingers or toes). Treatment varies from removal by cautery to more involved surgery. While putting a tight band around the base has been carried out, this is not typically recommended. If surgery is required, this is often done around two years of age. Occasionally multiple surgeries are required. Polydactyly is present in about 4 to 12 per 10,000 newborns. It is the most common defect of the ha ...
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Belgium
Belgium, officially the Kingdom of Belgium, is a country in Northwestern Europe. Situated in a coastal lowland region known as the Low Countries, it is bordered by the Netherlands to the north, Germany to the east, Luxembourg to the southeast, France to the south, and the North Sea to the west. Belgium covers an area of and has a population of more than 11.8 million; its population density of ranks List of countries and dependencies by population density, 22nd in the world and Area and population of European countries, sixth in Europe. The capital and Metropolitan areas in Belgium, largest metropolitan region is City of Brussels, Brussels; other major cities are Antwerp, Ghent, Charleroi, Liège, Bruges, Namur, and Leuven. Belgium is a parliamentary system, parliamentary constitutional monarchy with a complex Federation, federal system structured on regional and linguistic grounds. The country is divided into three highly autonomous Communities, regions and language areas o ...
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Rare Genetic Syndromes
Rare may refer to: * Rare, a particular temperature of meat * Something infrequent or scarce, see Scarcity :* Rare species, a conservation category in biology designating the scarcity of an organism and implying a threat to its viability Rare or RARE may also refer to: Acronyms * Ram Air Rocket Engine, a U.S. Navy program of the 1950s *Ronne Antarctic Research Expedition Music * Rare (Northern Irish band), a 1990s trip hop group * Rare (Serbian band), an alternative rock band Albums * ''Rare'' (Asia album), 1999 * ''Rare'' (David Bowie album), 1982 * ''Rare'' (Hundredth album), 2017 * ''Rare'' (Selena Gomez album) or the title song (see below), 2020 * '' Rare!'', by Crack the Sky, 1994 * '' Rare, Vol. 1'', by Ultravox, 1993 * '' Rare, Vol. 2'', by Ultravox, 1994 * ''Rare: The Collected B-Sides 1989–1993'', by Moby, 1996 * ''Rare'', by Xiu Xiu, 2012 Songs * "Rare" (Gwen Stefani song), 2016 * "Rare" (Selena Gomez song), 2020 * "Rare", by Man Overboard from ''Man Ov ...
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Congenital Disorders Of Musculoskeletal System
A birth defect is an abnormal condition that is present at birth, regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many birth defects are believed to involve multiple factors. Birth defects may be visible at birth or diagn ...
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