Карликовость: причины, проявления и социальные аспекты

Small size of an organism, caused by growth deficiency or genetic mutations
the medical condition

Dwarfism is a condition wherein an organism is exceptionally small, and mostly occurs in the animal kingdom. In humans, it is sometimes defined as an adult height of less than 4 feet (1 m), regardless of sex; the average adult height among people with dwarfism is 4 feet (1 m). People with dwarfism can usually bear children, though there are additional risks to the mother and child depending upon the underlying condition. The most common and recognisable form of dwarfism in humans (comprising 70% of cases) is achondroplasia, a genetic disorder whereby the limbs are diminutive. Many support groups provide services to aid individuals and the discrimination they may face. In addition to the medical aspect of the condition, there are also social aspects. For a person with dwarfism, height discrimination can lead to ridicule in childhood and discrimination in adulthood. In the United Kingdom, United States, Canada, Australia, and other English speaking countries, labels that some people with dwarfism accept include dwarf (plural: dwarfs), little person (LP), or person of short stature (see Terminology). Historically, the term midget was used to describe dwarfs (primarily proportionate); however, some now consider this term offensive.

A defining characteristic of dwarfism is an adult height less than 2.3% of the CDC standard growth charts. There is a wide range of physical characteristics. Variations in individuals are identified by diagnosing and monitoring the underlying disorders. There may not be any complications outside adapting to their size. Short stature is a common replacement of the term 'dwarfism', especially in a medical context. Short stature is clinically defined as a height within the lowest 2.3% of those in the general population. However, those with mild skeletal dysplasias may not be affected by dwarfism. In some cases of untreated hypochondroplasia, males grow up to 5 feet (2 m). Though that is short in a relative context, it does not fall into the extreme ranges of the growth charts. Disproportionate dwarfism is characterized by shortened limbs or a shortened torso. In achondroplasia one has an average sized trunk with short limbs and a larger forehead. thus leading to a height that is significantly below average. There may be long periods without any significant growth. Sexual development is often delayed or impaired into adulthood. This dwarfism type is caused by an endocrine disorder and not a skeletal dysplasia. Physical effects of malformed bones vary according to the specific disease. Many involve joint pain caused by abnormal bone alignment, or from nerve compression. Reduced thoracic size can restrict lung growth and reduce pulmonary function. Some forms of dwarfism are associated with disordered function of other organs, such as the brain or liver, sometimes severely enough to be more of an impairment than the unusual bone growth. Mental effects also vary according to the specific underlying syndrome. In most cases of skeletal dysplasia, such as achondroplasia, mental function is not impaired. The psycho social limitations of society may be more disabling than the physical symptoms, especially in childhood and adolescence, but people with dwarfism vary greatly in the degree to which social participation and emotional health are affected. Social prejudice against extreme shortness may reduce social and marital opportunities. Numerous studies have demonstrated reduced employment opportunities. Severe shortness is associated with lower income.]] Dwarfism can result from many medical conditions, each with its own separate symptoms and causes. Extreme shortness in humans with proportional body parts usually has a hormonal cause, such as growth hormone deficiency, once called pituitary dwarfism. Achondroplasia is responsible for the majority of human dwarfism cases, followed by spondyloepiphyseal dysplasia and diastrophic dysplasia.

The most recognizable and most common form of dwarfism in humans is achondroplasia, which accounts for 70% of dwarfism cases, and occurs in 4 to 15 out of 100,000 live births. It produces rhizomelic short limbs, increased spinal curvature, and distortion of skull growth. In achondroplasia the body's limbs are proportionately shorter than the trunk (abdominal area), with a larger head than average and characteristic facial features. Achondroplasia is an autosomal dominant disorder caused by the presence of an altered allele in the genome. If a pair of achondroplasia alleles are present, the result is fatal, usually perinatally. Achondroplasia is a mutation in the fibroblast growth factor receptor 3. In the context of achondroplasia, this mutation causes FGFR3 to become constitutively active, inhibiting bone growth.

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. 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.

Metatropic means "changing form" and refers to this form of skeletal dysplasia as there is an abnormality in the growth plates. Skeletal changes continue over time and may need surgical intervention to help protect the lungs. Symptoms starting at birth may be mild or can be fatal. There are recognizable features in individuals with this genetic disorder. Some are short stature, narrow chest, "facial features such as a prominent forehead, underdevelopment of the upper jaw, cheekbones and eye sockets (midface hypoplasia), and a squared off jaw."

Other causes of dwarfism are spondyloepiphyseal dysplasia congenita, diastrophic dysplasia, pseudoachondroplasia, hypochondroplasia, Noonan syndrome, primordial dwarfism, Cockayne syndrome, Kniest dysplasia, Turner syndrome, osteogenesis imperfecta (OI), and hypothyroidism. Severe shortness with skeletal distortion also occurs in several of the mucopolysaccharidoses and other storage disorders. Hypogonadotropic hypogonadism may cause proportionate, yet temporary, dwarfism. NPR2 disproportionate dwarfism was discovered recently and is caused by a mutant gene. 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. In a person's youth, growth charts that track height can be used to diagnose subtle forms of dwarfism that have no other striking physical characteristics. During an initial medical evaluation of shortness, the absence of disproportion and other clues listed above usually indicates causes other than bone dysplasias.

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. The terms "little person", "LP" and "person of short stature" are the preferred terms of those with this disorder, and while many are uncomfortable with "dwarf" it remains a common term in some areas. "Midget", whose etymology indicates a "tiny biting insect", came into prominence in the mid 19th century after Harriet Beecher Stowe used it in her novels Sunny Memories of Foreign Lands and Oldtown Folks where she described children and an extremely short man, respectively. It is also not considered accurate as it is not a medical term or diagnosis, though it is sometimes used as a slang term to describe those who are particularly short, whether or not they have dwarfism.

Individuals with dwarfism are capable of actively participating in various aspects of society. They have access to education, sports, and can pursue careers, engaging in a wide range of professions.

Individuals with dwarfism often face prejudice and stereotypes. Research by Klein (2019) has demonstrated that awareness of the stigmatization of this group can promote full participation in society. The research by Green and Pinter (2018) in the field of humor and social psychology can provide insights to reduce stereotypes and promote a more objective perception.

In daily life, little people face numerous obstacles because the environment is tailored to average sized individuals. Some little people can only use ATMs, kitchens, toilets, and sinks with aids. Low stools and step stools play a special role, as they can be used in various ways to bridge the height difference. Stools are also useful as footrests while sitting, as the legs of short people dangle in the air when sitting on an average chair, which can be painful and uncomfortable in the long run and may hinder fine motor skills during work. To be mobile, some individuals use customized scooters or bicycles, as it can be problematic, depending on the type of short stature, to walk longer distances. With specially adapted vehicles, most individuals of short stature can drive without further hindrances. Generally, pedal extensions and an individually adjusted seat at the correct height are required. Some little people are tall enough to drive without pedal extensions. Usually, patients with skeletal dysplasia with limited mobility can receive allowances or grants for vehicle assistance through governmental help or rehabilitation providers.

Dwarfs are supported to compete in sport by a number of organisations nationally and internationally. Dwarfs are included in some events in the Athletics at the Summer Paralympics. The Dwarf Athletic Association of America and the Dwarf Sports Association UK provide opportunities for dwarfs to compete nationally and internationally in the Americas and Europe, respectively. The World Dwarf Games (WDG) are a multi sport event for athletes of short stature. The WDG have been held every four years since 1993 and are the world's largest sporting event exclusively for athletes with dwarfism. The Dwarf Sports Association UK organises between 5 and 20 events per month for athletes with restricted growth conditions in the UK. 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. "Midget wrestling" had its heyday in the 1950s–'70s, when wrestlers such as Little Beaver, Lord Littlebrook, and Fuzzy Cupid toured North America, and Sky Low Low was the first holder of the National Wrestling Alliance's World Midget Championship. 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. 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. The ancient Hindu text Bhagavat Purana devotes nine chapters to the adventures of Vamana, a dwarf avatar of Lord Vishnu. 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. Recent scholarship has suggested that ancient Egyptians held dwarfs in high esteem. Several important mythological figures of the North American Wyandot nation are portrayed as dwarfs. As popular media have become more widespread, the number of works depicting dwarfs have increased dramatically. Dwarfism is depicted in many books, films, and TV series such as Willow, The Wild Wild West, The Man with the Golden Gun (and later parodied in Austin Powers), Gulliver's Travels by Jonathan Swift, The Wizard of Oz, Willy Wonka & the Chocolate Factory, Bad Santa, A Son of the Circus, Little People, Big World, The Little Couple, A Song of Ice and Fire (and its TV adaptation Game of Thrones), Seinfeld, The Orator, In Bruges, The Tin Drum by Günter Grass, the short lived reality show The Littlest Groom, and the films The Station Agent and Zero. The Animal Planet TV series Pit Boss features dwarf actor Shorty Rossi and his talent agency, "Shortywood Productions", which Rossi uses to provide funding for his pit bull rescue operation, "Shorty's Rescue". Rossi's three full time employees, featured in the series, are all little people and aspiring actors. In September 2014, Creative Business House, along with Donnons Leur Une Chance, created the International Dwarf Fashion Show to raise awareness and boost self confidence of people living with dwarfism. A number of reality television series on Lifetime, beginning with Little Women: LA in 2014, focused on showing the lives of women living with dwarfism in various cities around the United States.