If a pair of achondroplasia alleles are present, the result is fatal. Achondroplasia is a mutation in the fibroblast growth factor receptor 3.
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Research by urologist Harry Fisch of the Male Reproductive Center at Columbia Presbyterian Hospital indicates that in humans this defect may be exclusively inherited from the father and becomes increasingly probable with paternal age: specifically males reproducing after Growth hormone deficiency GHD is a medical condition in which the body produces insufficient growth hormone.
Growth hormone, also called somatotropin , is a polypeptide hormone which stimulates growth and cell reproduction.
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If this hormone is lacking, stunted or even halted growth may become apparent. Children with this disorder may grow slowly and puberty may be delayed by several years or indefinitely. Growth hormone deficiency has no single definite cause. It can be caused by mutations of specific genes, damage to the pituitary gland, Turner's syndrome , poor nutrition,  or even stress leading to psychogenic dwarfism.
Laron syndrome growth hormone insensitivity is another cause. Those with growth hormone issues tend to be proportionate. Other causes of dwarfism are spondyloepiphyseal dysplasia congenita , diastrophic dysplasia , pseudoachondroplasia , hypochondroplasia , Noonan syndrome , primordial dwarfism , Turner syndrome , osteogenesis imperfecta OI , and hypothyroidism.
Severe shortness with skeletal distortion also occurs in several of the Mucopolysaccharidoses and other storage disorders. Serious chronic illnesses may produce dwarfism as a side effect. Harsh environmental conditions, such as malnutrition, may also produce dwarfism. These types of dwarfism are indirect consequences of the generally unhealthy or malnourished condition of the individual, and not of any specific disease.
The dwarfism often takes the form of simple short stature, without any deformities, thus leading to proportionate dwarfism. In societies where poor nutrition is widespread, the average height of the population may be reduced below its genetic potential by the lack of proper nutrition. Sometimes there is no definitive cause of short stature.
Dwarfism is often diagnosed in childhood on the basis of visible symptoms. A physical examination can usually suffice to diagnose certain types of dwarfism, but genetic testing and diagnostic imaging may be used to determine the exact condition.
Short stature or stunted growth during youth is usually what brings the condition to medical attention. Skeletal dysplasia is usually suspected because of obvious physical features e. Most children with suspected skeletal dysplasias are referred to a genetics clinic for diagnostic confirmation and genetic counseling.
Since about the year , genetic tests for some of the specific disorders have become available. During an initial medical evaluation of shortness, the absence of disproportion and other clues listed above usually indicates causes other than bone dysplasias. Dwarfism is usually caused by a genetic variant; achondroplasia is caused by a mutation on chromosome 4. If dwarfism is caused by a medical disorder, the person is referred to by the underlying diagnosed disorder. Disorders causing dwarfism are often classified by proportionality. Disproportionate dwarfism describes disorders that cause unusual proportions of the body parts, while proportionate dwarfism results in a generally uniform stunting of the body.
Disorders that cause dwarfism may be classified according to one of hundreds of names, which are usually permutations of the following roots:. Examples include achondroplasia and chondrodystrophy. Many types of dwarfism are currently impossible to prevent because they are genetically caused. Genetic conditions that cause dwarfism may be identified with genetic testing , by screening for the specific variations that result in the condition.
However, due to the number of causes of dwarfism, it may be impossible to determine definitively if a child will be born with dwarfism. Dwarfism resulting from malnutrition or a hormonal abnormality may be treated with an appropriate diet or hormonal therapy. Growth hormone deficiency may be remedied via injections of human growth hormone HGH during early life.
Genetic mutations of most forms of dwarfism caused by bone dysplasia cannot be altered yet, so therapeutic interventions are typically aimed at preventing or reducing pain or physical disability, increasing adult height, or mitigating psychosocial stresses and enhancing social adaptation.
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Forms of dwarfism associated with the endocrine system may be treated using hormonal therapy. If the cause is prepubescent hyposecretion of growth hormone, supplemental growth hormone may correct the abnormality. If the receptor for growth hormone is itself affected, the condition may prove harder to treat. Hypothyroidism is another possible cause of dwarfism that can be treated through hormonal therapy.
Injections of thyroid hormone can mitigate the effects of the condition, but lack of proportion may be permanent. Pain and disability may be ameliorated by physical therapy, braces or other orthotic devices, or by surgical procedures. Most people with dwarfism do not choose this option, and it remains controversial. The appropriate term for describing a person of particularly short stature or with the genetic condition achondroplasia has historically been ambiguous, and has developed euphemistically over the past few centuries.
The noun dwarf stems from Old English dweorg , originally referring to a being from Germanic mythology —a dwarf —that dwells in mountains and in the earth, and is associated with wisdom, smithing, mining, and crafting. The etymology of the word dwarf is contested, and scholars have proposed varying theories about the origins of the being, including that dwarfs may have originated as nature spirits or as beings associated with death, or as a mixture of concepts.
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The being may not have gained associations with small stature until a later period. The terms "dwarf", "little person", "LP", and "person of short stature" are now generally considered acceptable by most people affected by these disorders. Tolkien , describing a race of characters in his The Lord of the Rings books resembling Norse dwarfs. Barnum 's dwarfs used for public amusement during the freak show era.
Dwarfs are supported to compete in sport by a number of organisations nationally and internationally. For instance, swimming and bicycling are often recommended for people with skeletal dysplasias, since those activities put minimal pressure on the spine. Since its early days, professional wrestling has had the involvement of dwarf athletes. In the following couple of decades, more wrestlers became prominent in North America, including foreign wrestlers like Japan's Little Tokyo.
Although the term is seen by some as pejorative, many past and current midget wrestlers, including Hornswoggle , have said they take pride in the term due to its history in the industry and its marketability. In art, literature, and movies, dwarfs are rarely depicted as ordinary people who are very short but rather as a species apart.
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Novelists , artists , and moviemakers may attach special moral or aesthetic significance to their "apartness" or misshapenness. Artistic representations of dwarfism can be found on Greek vases and other ancient artifacts, including ancient Egyptian art in which dwarfs are likely to have been seen as a divine manifestation, with records indicating they could reach high positions in society. Depictions of dwarfism are also found in European paintings and many illustrations.
Many European paintings especially Spanish of the 16th—19th centuries depict dwarfs by themselves or with others. In the Talmud , it is said that the second born son of the Egyptian Pharaoh of the Bible was a dwarf. As popular media have become more widespread, the number of works depicting dwarfs have increased dramatically. Rossi's three full-time employees, featured in the series, are all little people and aspiring actors.
From Wikipedia, the free encyclopedia. This article is about the medical condition. For the legendary creature, see Dwarf mythology. For other uses, see Dwarf. See also: Heightism. Further information: Achondroplasia. Further information: Growth hormone deficiency. Retrieved National Institute of Health.
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