Dwarfism


Dwarfism
Dwarfism
Classification and external resources

Lavinia Warren, an actress with dwarfism.
ICD-10 E23.0, E34.2, E45.0, Q77.4
ICD-9 253.3, 259.4
DiseasesDB 80
MedlinePlus 001176
MeSH D004392
The Dwarf Don Sebastián de Morra, by Velázquez.
Seneb, court official and priest for the Ancient Egyptian rulers Khufu and Djedefre, with his wife Senetites and their children.[1]

Dwarfism (play /ˈdwɔrfɪzəm/) is short stature resulting from a medical condition. It is sometimes defined as an adult height of less than 4 feet 10 inches  (147 cm),[2] although this definition is problematic because short stature in itself is not a disorder.

Dwarfism can be caused by about 200 distinct medical conditions,[3] such that the symptoms and characteristics of individual people with dwarfism vary greatly. In the United States, Canada and New Zealand, many people with dwarfism prefer to be called little people.[4]

Disproportionate dwarfism is characterized by one or more body parts being relatively large or small in comparison to those of an average-sized adult, with growth variations in specific areas being apparent. In cases of proportionate dwarfism, the body appears normally proportioned, but is unusually small. Historically, the term midget was used to describe "proportionate dwarfs"; however, this term has now become offensive and pejorative (see terminology). Hypotonia, or low muscle tone, is common in dwarfs, but intelligence and lifespan are usually normal.

Achondroplasia is a bone-growth disorder responsible for 70% of dwarfism cases.[2] With achondroplasia, one's limbs are proportionately shorter than one's trunk (abdominal area), with a larger head than average and characteristic facial features. Conditions in humans characterized by disproportional body parts are typically caused by one or more genetic disorders in bone or cartilage development. Extreme shortness in humans with proportional body parts usually has a hormonal cause, such as growth-hormone deficiency, once called pituitary dwarfism.[4][5]

There is no single treatment for dwarfism. Individual differences, such as bone-growth disorders, sometimes can be treated through surgery, and some hormone disorders can be treated through medication, but usually it is impossible to treat all the symptoms of dwarfism. Individual accommodations, such as specialized furniture, are often used by people with dwarfism.[6] Many support groups provide services to aid individuals with dwarfism in facing the challenges of an ableist society.[7]

Dwarfism is a highly visible condition and often carries negative connotations in society. Because of their unusual height, people with dwarfism are often used as spectacles in entertainment and portrayed with stereotypes. For a person with dwarfism, heightism can lead to ridicule in childhood and discrimination in adulthood.[8][9]

Short stature can be inherited without any coexisting disease. Short stature in the absence of a medical condition is not generally considered dwarfism. For example, a short man and a short woman with average health will tend to produce children who are also short and with average health. While short parents tend to produce short children, persons with dwarfism may produce children of average height, if the cause of their dwarfism is not genetically transmissible or if the individual does not pass on the genetic variation.

Contents

Classification

Dwarfism is a medical disorder with the sole requirement being an adult height under 147 cm (4 ft 10 in) and it is almost always classified as to the underlying condition that is the cause for the short stature. Dwarfism is not necessarily caused by disease or a genetic disorder; it can simply be a naturally occurring consequence of a person's genetics. 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:

  • location
    • rhizomelic = root, e.g., bones of the upper arm or thigh
    • mesomelic = middle, e.g., bones of the forearm or lower leg
    • acromelic = end, e.g., bones of hands and feet.
    • micromelic = entire limbs are shortened
  • source
    • chondro = of cartilage
    • osteo = of bone
    • spondylo = of the vertebrae
    • plasia = form
    • trophy = growth

Examples include achondroplasia, osseous dysplasia, chondrodystrophy, and osteochondrodystrophy.[10]

Characteristics

A typical defining characteristic of dwarfism is an adult height of less than 147 cm (4 ft 10 in). Since those with dwarfism have such a wide range of physical characteristics, variations in individuals are identified by diagnosing and monitoring the underlying disorders.

Disproportionate dwarfism is characterized by one or more body parts being unusually large or small compared to the rest of the body. In achondroplasia one's trunk is of average size, one's limbs being proportionately shorter, one's head larger, and a prominent forehead.[5] Facial features are often affected and individual body parts may have problems associated with them. Orthopedic problems can result from multiple conditions such as diastrophic dysplasia and pseudoachondroplasia.

Proportionate dwarfism is marked by body parts being proportional but smaller.[11] Height is significantly below average and there may be long periods without any significant growth. Sexual development is often delayed or impaired into adulthood. Unlike disproportionate dwarfism, in some cases intellectual disability may be a part of proportionate dwarfism. The overall stunted growth can lead to impaired intelligence when compared to physical age.[citation needed]

Physical maleffects of malformed bones vary according to the specific disease. Many involve joint pain caused by abnormal bone alignment, or from nerve compression.[4] Early degenerative joint disease, exaggerated lordosis or scoliosis, and constriction of spinal cord or nerve roots can cause pain and disability.[12] 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.[13][14]

Mental effects also vary according to the specific underlying syndrome. In most cases of skeletal dysplasia, such as achondroplasia, mental function is not impaired in any way.[11] However, there are syndromes which can affect the cranial structure and growth of the brain, severely impairing mental capacity. Unless the brain is directly affected by the underlying disorder, there is little to no chance of mental impairment that can be attributed to dwarfism.[15]

The psychosocial 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.[16][17]
  • Numerous studies have demonstrated reduced employment opportunities. Severe shortness is associated with lower income.[17]
  • Self-esteem may suffer and family relationships may be affected.
  • Extreme shortness (in the low 2–3 foot [60–90 cm] range) can, if not accommodated for, interfere with activities of daily living, like driving or using countertops built for taller people. Other common attributes of dwarfism such as bowed knees and unusually short fingers can lead to back problems, and difficulty in walking and handling objects.
  • Children with dwarfism are particularly vulnerable to teasing and ridicule from classmates. Because dwarfism is relatively uncommon, children may feel isolated from their peers.[13]

Causes

Dwarfism can result from myriad medical conditions, each with its own separate symptoms and causes. Two disorders, achondroplasia and growth hormone deficiency (also known as pituitary dwarfism), are responsible for the majority of dwarfism cases.[3]

Achondroplasia

The most recognizable and most common form of dwarfism is achondroplasia, which accounts for 70% of dwarfism cases and produces rhizomelic short limbs, increased spinal curvature, and distortion of skull growth. Achondroplasia is an autosomal dominant disorder caused by the presence of a faulty allele in a person's genome. If a pair of achondroplasia alleles are present, the result is fatal. Achondroplasia is a mutation in the fibroblast growth factor receptor gene 3 (FGFR3), which is an inhibitor that regulates bone growth. In cases of achondroplasia, the FGFR3 gene is too aggressive, negatively impacting bone growth.[18]

Research by urologist Harry Fisch of the Male Reproductive Center at Columbia Presbyterian Hospital indicates that this defect may be exclusively inherited from the father and becomes increasingly probable with paternal age; specifically males reproducing after 35.[19]

Growth hormone deficiency

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,[20] or even stress (leading to psychogenic dwarfism).

Other

Other causes of dwarfism include 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.[21]

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. 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.

Diagnosis

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.[22] 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.[3]

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.g., unusual configuration of face or shape of skull), because of an obviously affected parent, or because body measurements (arm span, upper to lower segment ratio) indicate disproportion.[22] Bone X-rays are often key to diagnosing a specific skeletal dysplasia, but are not the sole diagnostic tool. Most children with suspected skeletal dysplasias are referred to a genetics clinic for diagnostic confirmation and genetic counseling. Since about the year 2000, genetic tests for some of the specific disorders have become available.[23]

During an initial medical evaluation of shortness, the absence of disproportion and other clues listed above usually indicates causes other than bone dysplasias. Extreme shortness with completely normal proportions sometimes indicates growth hormone deficiency (pituitary dwarfism).[24]

Short stature alone, in the absence of any other abnormalities, may be the result of the distribution of offspring height from short-statured parents, rather than a symptom of any medical condition.[25]

Prevention

Many types of dwarfism are impossible to prevent because they are genetically caused. Genetic conditions that cause dwarfism may be identified with genetic testing, by screening for the specific variation 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.

Management

Genetic defects of most forms of dwarfism caused by bone dysplasia cannot be corrected, 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.[7]

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 physical complications may be permanent.

Pain and disability may be ameliorated by physical therapy, braces or other orthotic devices, or by surgical procedures.[7] The only simple interventions that increase perceived adult height are dress enhancements, such as shoe lifts or hairstyle. Growth hormone is rarely used for shortness caused by bone dysplasias, since the height benefit is typically small (less than 5 cm [2 in]) and the cost high.[6] The most effective means of increasing adult height by several inches is distraction osteogenesis, though availability is limited and the cost is high in terms of money, discomfort, and disruption of life. Most people with dwarfism do not choose this option, and it remains controversial.[4] For other types of dwarfism, surgical treatment is not possible.

Society and culture

Terminology

Two Norse dwarf as depicted in a 19th century edition of the Poetic Edda poem Völuspá (1895) by Lorenz Frølich

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. Competing etymologies include a basis in the Indo-European root *dheur- (meaning 'damage'), the Indo-European root *dhreugh (whence modern German traum 'dream' and trug 'deception'), and comparisons have been made with the Old Indian dhvaras (a type of demonic being). The being may not have gained associations with small stature until a late period.[26]

The terms "dwarf", "little person", "LP", and "person of short stature" are now generally considered acceptable by most people affected by these disorders.[5]

"Midget", whose etymology indicates a "small sandfly,"[27] came into prominence in the mid-19th century after Harriet Beecher Stowe used it in her novels Sunny Memories of Foreign Lands and Old Town Folks where she described children and an extremely short man, respectively.[5] Later most people of short stature considered the word to be offensive because it was the descriptive term applied to P. T. Barnum's dwarfs used for public amusement during the freak show era.[4] 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.[28]

Art and media depictions

In art, literature, or movies, dwarfs are rarely depicted as "regular 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.[29][30]

The Bhagavat Purana Hindu text devotes nine chapters to the adventures of Vamana, a dwarf avatar of Vishnu.

Depiction of dwarfs is 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.[31] Recent scholarship has suggested that ancient Egyptians held dwarfs in high esteem.[32] Several important mythological figures of the North American Wyandot nation are portrayed as dwarfs.[33]

As popular media have become more widespread, the number of works depicting dwarfs has increased dramatically. Some feel that dwarf characters are often depicted based on the novelty factor of their stature rather than on other personal attributes. Dwarfism is depicted in many books, films, and TV series such as Willow, Austin Powers, Gulliver's Travels by Jonathan Swift,[34] The Wizard of Oz, Willy Wonka & the Chocolate Factory, A Son of the Circus, Little People Big World, The Little Couple, Harry Potter, A Song of Ice and Fire, Seinfeld, In Bruges, The Tin Drum by Günter Grass, and the film The Station Agent.

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.

The Holocaust

During The Holocaust, Jewish dwarfs were often used as medical experimentation subjects at Auschwitz by Josef Mengele. The most notable dwarfs at Auschwitz were the Ovitz family.

See also

References

  1. ^ "Ancient Egypt:Kingdom of the Pharaohs", R. Hamilton, p. 47, Paragon, 2006, ISBN 1-4054-8288-5
  2. ^ a b "MedlinePlus: Dwarfism". MedlinePlus. National Institute of Health. 2008-08-04. http://www.nlm.nih.gov/medlineplus/dwarfism.html. Retrieved 2008-10-03. 
  3. ^ a b c "Dwarfism". http://kidshealth.org/parent/growth/growth/dwarfism.html. Retrieved 2009-02-22. 
  4. ^ a b c d e "Dwarfism Resources: Frequently Asked Questions". Little People of America. 2006-07-09. Archived from the original on 2007-07-12. http://web.archive.org/web/20060516011550/http://www.lpaonline.org/resources_faq.html. Retrieved 2006-11-14. 
  5. ^ a b c d Kennedy, Dan. "P.O.V. - Big Enough. What is Dwarfism?". Public Broadcasting Service. http://www.pbs.org/pov/pov2005/bigenough/special_dwarfism_ety.html. Retrieved 2008-11-18. 
  6. ^ a b Hagenäs L, Hertel T (2003). "Skeletal dysplasia, growth hormone treatment and body proportion: comparison with other syndromic and non-syndromic short children". Horm. Res. 60 Suppl 3: 65–70. doi:10.1159/000074504. PMID 14671400. http://content.karger.com/produktedb/produkte.asp?typ=fulltext&file=HRE2003060S03065. Retrieved 2008-11-17. 
  7. ^ a b c "Dwarfism: Treatment and drugs". MayoClinic.com. Mayo Foundation for Medical Education and Research. 2007-09-27. http://www.mayoclinic.com/health/dwarfism/DS01012/DSECTION=treatments-and-drugs. Retrieved 2008-11-18. 
  8. ^ University of Pennsylvania, Arts and Sciences: "The Effect of Adolescent Experience on Labor Market Outcomes: The Case of Height".
  9. ^ Science Blog: "Short children more likely to be bullied at school".
  10. ^ "Dwarfism and Dysplasias - Wheeless' Textbook of Orthopaedics". Wheeless' Textbook of Orthopaedics. Duke Orthopaedics. 2006-06. http://www.wheelessonline.com/ortho/dwarfism_and_dysplasias. Retrieved 2007-12-07. 
  11. ^ a b "Dwarfism: Symptoms". MayoClinic.com. Mayo Foundation for Medical Education and Research. http://www.mayoclinic.com/health/dwarfism/DS01012/DSECTION=symptoms. Retrieved 2009-01-29. 
  12. ^ "Dwarfism and Bone Dysplasias". Seattle Children's Hospital, Research & Foundation. http://orthopedics.seattlechildrens.org/conditions_treated/dwarfism_and_bone_dysplasias.asp. Retrieved 2008-11-18. 
  13. ^ a b "Dwarfism: Complications". MayoClinic.com. Mayo Foundation for Medical Education and Research. http://www.mayoclinic.com/health/dwarfism/DS01012/DSECTION=complications. Retrieved 2008-11-18. 
  14. ^ Escamilla RF, Hutchings JJ, Li CH, Forsham P (August 1966). "Achondroplastic dwarfism. Effects of treatment with human growth hormone". Calif Med 105 (2): 104–10. PMC 1516352. PMID 5946547. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1516352. Retrieved 2008-11-17. 
  15. ^ "The Pituitary Gland & Growth Disorders: An Overview". http://www.hormone.org/Growth/overview.cfm. Retrieved 2009-02-22. 
  16. ^ Hall, Judith A.; BETTY M. ADELSON (2005). Dwarfism: medical and psychosocial aspects of profound short stature. Baltimore: Johns Hopkins University Press. ISBN 0-8018-8121-8. 
  17. ^ a b Gollust SE, Thompson RE, Gooding HC, Biesecker BB (August 2003). "Living with achondroplasia in an average-sized world: an assessment of quality of life". American journal of medical genetics. Part A 120A (4): 447–58. doi:10.1002/ajmg.a.20127. PMID 12884421. 
  18. ^ "Achondroplasia - Genetics Home Reference". Genetics Home Reference. National Institute of Health. 2008-09-26. http://ghr.nlm.nih.gov/condition=achondroplasia. Retrieved 2008-10-01. 
  19. ^ The Male Biological Clock by Harry Fisch
  20. ^ "Growth Hormone Deficiency". UK Child Growth Foundation. http://www.childgrowthfoundation.org/ghd.htm. Retrieved 2009-01-16. 
  21. ^ "Causes of Dwarfism - WrongDiagnosis.com". http://www.wrongdiagnosis.com/d/dwarfism/causes.htm. Retrieved 2009-03-23. 
  22. ^ a b "DWARFISM (Algorithmic Diagnosis of Symptoms and Signs) - WrongDiagnosis.com". http://www.wrongdiagnosis.com/d/dwarfism/book-diseases-1a.htm. Retrieved 2009-02-22. 
  23. ^ "Dwarfism: Tests and diagnosis". Mayo Clinic. Mayo Foundation for Medical Education and Research. 2007-08-27. http://www.mayoclinic.com/health/dwarfism/DS01012/DSECTION=tests-and-diagnosis. Retrieved 2008-11-18. 
  24. ^ Kemp, Stephen (2008-09-15). "eMedicine - Growth Hormone Deficiency : Article by Stephen Kemp". eMedicine. WebMD, Inc.. http://www.emedicine.com/PED/topic1810.htm. Retrieved 2008-11-18. 
  25. ^ "Short Stature in Children". eMedicineHealth.com. WebMD, Inc.. http://www.emedicinehealth.com/short_stature_in_children/article_em.htm. Retrieved 2008-11-18. 
  26. ^ Simek, Rudolf (2007) translated by Angela Hall. Dictionary of Northern Mythology, pages 67—68. D.S. Brewer ISBN 0-85991-513-1
  27. ^ "midget". Online Etymology Dictionary. Dictionary.com. http://dictionary.reference.com/browse/midget. Retrieved 2008-11-18. 
  28. ^ "Midget definition". MedicineNet. MedicineNet, Inc.. 3/9/2003. http://www.medterms.com/script/main/art.asp?articlekey=22596. Retrieved 2008-11-18. 
  29. ^ "Ancient Egyptian Medicine",John F. Nunn, University of Oklahoma Press, 2002, p. 78-79, ISBN 0-8061-3504-2
  30. ^ Dwarfs Commanded Respect In Ancient Egypt, ScienceDaily, 27 Dec 2005
  31. ^ The Talmud - Chapter Vi. Death Of Jacob And His Sons--Moses--The Deliverance From Egypt. URL accessed April 23, 2007.
  32. ^ Kozma, Chahira (2005-12-27). "Dwarfs in ancient Egypt". American Journal of Medical Genetics 140A (4): 303–311. doi:10.1002/ajmg.a.31068. PMID 16380966. http://www3.interscience.wiley.com/journal/112222883/abstract. Retrieved 2008-11-12. 
  33. ^ Trigger, Bruce G., The Children of Aataentsic: A History of the Huron People to 1660 McGill-Queen's University Press, 1987 ISBN 0-7735-0627-6, p. 529.
  34. ^ Gulliver's Travels: Complete, Authoritative Text with Biographical and Historical Contexts, Palgrave Macmillan 1995 (p. 21). The quote has been misattributed to Alexander Pope, who wrote to Swift in praise of the book just a day earlier.

External links

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Look at other dictionaries:

  • dwarfism — dwarfism. См. нанизм. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • dwarfism — ► NOUN ▪ unusually low stature or small size …   English terms dictionary

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  • dwarfism — noun Date: 1865 the condition of stunted growth …   New Collegiate Dictionary

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