Dwarfism

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Dwarfism
Ethan Crough, male dwarf.jpg
A man with dwarfism
Pronunciation
Specialty Endocrinology, medical genetics

Dwarfism, also known as short stature, occurs when an organism is extremely small. [1] In humans, it is sometimes defined as an adult height of less than 147 centimetres (4 ft 10 in), regardless of sex, although some individuals with dwarfism are slightly taller. [2] [3] Disproportionate dwarfism is characterized by either short limbs or a short torso. In cases of proportionate dwarfism, both the limbs and torso are unusually small. Normal intelligence and lifespan are usual. [4]

Contents

Treatment depends on the underlying cause. Those with bone growth disorders can sometimes be treated with surgery, or physical therapy. Hormone disorders can also be treated with hormone replacement therapy before the child's growth plates fuse. Individual accommodations, such as specialized furniture, are often used by people with dwarfism. [5] Many support groups provide services to aid individuals and the discrimination they may face. [6]

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. [7] [8] In the United Kingdom, United States, Canada, Australia, and other English-speaking countries, some people with dwarfism prefer to be called dwarfs, little people, or persons of short stature. [9] [10] Historically, the term "midget" was used to describe proportionate dwarfs; however, this term is now regarded as offensive by some. [11]

Height discrimination is prejudice or discrimination against individuals based on height. In principle, it refers to discriminatory treatment against individuals whose height is not within the normal acceptable range of height in a population. Height discrimination is most common against shorter than average men and is generally accepted and ignored. Some tall women have resorted to high dosages of oestrogen to reduce their height.

United Kingdom Country in Europe

The United Kingdom, officially the United Kingdom of Great Britain and Northern Ireland but more commonly known as the UK or Britain, is a sovereign country lying off the north-western coast of the European mainland. The United Kingdom includes the island of Great Britain, the north-eastern part of the island of Ireland and many smaller islands. Northern Ireland is the only part of the United Kingdom that shares a land border with another sovereign state‍—‌the Republic of Ireland. Apart from this land border, the United Kingdom is surrounded by the Atlantic Ocean, with the North Sea to the east, the English Channel to the south and the Celtic Sea to the south-west, giving it the 12th-longest coastline in the world. The Irish Sea lies between Great Britain and Ireland. With an area of 242,500 square kilometres (93,600 sq mi), the United Kingdom is the 78th-largest sovereign state in the world. It is also the 22nd-most populous country, with an estimated 66.0 million inhabitants in 2017.

United States federal republic in North America

The United States of America (USA), commonly known as the United States or America, is a country composed of 50 states, a federal district, five major self-governing territories, and various possessions. At 3.8 million square miles, the United States is the world's third or fourth largest country by total area and is slightly smaller than the entire continent of Europe's 3.9 million square miles. With a population of over 327 million people, the U.S. is the third most populous country. The capital is Washington, D.C., and the largest city by population is New York. Forty-eight states and the capital's federal district are contiguous in North America between Canada and Mexico. The State of Alaska is in the northwest corner of North America, bordered by Canada to the east and across the Bering Strait from Russia to the west. The State of Hawaii is an archipelago in the mid-Pacific Ocean. The U.S. territories are scattered about the Pacific Ocean and the Caribbean Sea, stretching across nine official time zones. The extremely diverse geography, climate, and wildlife of the United States make it one of the world's 17 megadiverse countries.

Signs and symptoms

Dwarfism occurs in animals as well as humans; horses can have achondroplastic symptoms, as shown here next to a person with dwarfism Dackelpferd.jpg
Dwarfism occurs in animals as well as humans; horses can have achondroplastic symptoms, as shown here next to a person with dwarfism

A defining characteristic of dwarfism is an adult height less than the 2.3rd percentile 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 5 inches. Though that is short in a relative context, it does not fall into the extreme ranges of the growth charts.

Dysplasia abnormal development, at macroscopic or microscopical level

Dysplasia is a term used in pathology to refer to an abnormality of development or an epithelial anomaly of growth and differentiation.

Hypochondroplasia osteochondrodysplasia that has material basis in mutation in the FGFR3 gene which affects ossification of cartilage and results in short limb dwarfism

Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia and a head that appears large in comparison with the underdeveloped portions of the body. It is classified as short-limbed dwarfism.

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. [12] Facial features are often affected and individual body parts may have problems associated with them. Spinal stenosis, ear infection, and hydrocephalus are common. In case of spinal dysostosis, one has a small trunk, with average-sized limbs.

Achondroplasia is a genetic disorder that results in dwarfism. In those with the condition, the arms and legs are short, while the torso is typically of normal length. Those affected have an average adult height of 131 centimetres for males and 123 centimetres (4 ft) for females. Other features include an enlarged head and prominent forehead. Intelligence is generally normal.

Spinal stenosis bone deterioration disease that has material basis in bony spurs, disc degeneration, or thickened ligaments which results in narrowing located in spinal cord

Spinal stenosis is an abnormal narrowing of the spinal canal or neural foramen that results in pressure on the spinal cord or nerve roots. Symptoms may include pain, numbness, or weakness in the arms or legs. Symptoms are typically gradual in onset and improve with bending forwards. Severe symptoms may include loss of bladder control, loss of bowel control, or sexual dysfunction.

Hydrocephalus disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain

Hydrocephalus is a condition in which an accumulation of cerebrospinal fluid (CSF) occurs within the brain. This typically causes increased pressure inside the skull. Older people may have headaches, double vision, poor balance, urinary incontinence, personality changes, or mental impairment. In babies, it may be seen as a rapid increase in head size. Other symptoms may include vomiting, sleepiness, seizures, and downward pointing of the eyes.

Proportionate dwarfism is marked by a short torso with short limbs, [13] 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. [9] Early degenerative joint disease, exaggerated lordosis or scoliosis, and constriction of spinal cord or nerve roots can cause pain and disability. [14] 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. [15] [16]

Mental effects also vary according to the specific underlying syndrome. In most cases of skeletal dysplasia, such as achondroplasia, mental function is not impaired. [13] 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. [17]

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.

Causes

Seneb, court official and priest for the Ancient Egyptian rulers Khufu and Djedefre, with his wife Senetites and their children. Seneb and wife statue.jpg
Seneb, court official and priest for the Ancient Egyptian rulers Khufu and Djedefre, with his wife Senetites and their children.

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. [9] [12] Two disorders, achondroplasia and growth hormone deficiency, are responsible for the majority of human dwarfism cases. [21]

Achondroplasia

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. [22]

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 a faulty allele in the genome. If a pair of achondroplasia alleles are present, the result is fatal. Achondroplasia is a mutation in the fibroblast growth factor receptor 3. [23] In the context of achondroplasia, this mutation causes FGFR3 to become constitutively active, inhibiting bone growth. [24]

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 35. [25]

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, [26] 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

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. [27] Hypogonadotropic hypogonadism may cause proportionate, yet temporary, dwarfism.

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.

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. [28] 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. [21]

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. [28] 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. [29]

During an initial medical evaluation of shortness, the absence of disproportion and other clues listed above usually indicates causes other than bone dysplasias.

Classification

Lavinia Warren, an actress with pituitary dwarfism (growth hormone deficiency). Lavinia Warren - Brady-Handy.jpg
Lavinia Warren, an actress with pituitary dwarfism (growth hormone deficiency).

In men and women, the sole requirement for being considered a dwarf is having an adult height under 147 cm (4 ft 10 in) and it is almost always classified with respect to the underlying condition that is the cause of the short stature. 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.

Prevention

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.

Management

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. [6]

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. [6] 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. [5] 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. [9] For other types of dwarfism, surgical treatment is not possible.

Society and culture

Terminology

Two Norse dwarves as depicted in a 19th-century edition of the Poetic Edda poem Voluspa (1895) by Lorenz Frolich Two Voluspa Dwarves by Frolich.jpg
Two Norse dwarves 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 later period. [30]

The terms "dwarf", "little person", "LP", and "person of short stature" are now generally considered acceptable by most people affected by these disorders. [12] However, the plural "dwarfs" as opposed to "dwarves" is generally preferred in the medical context, possibly because the plural "dwarves" was popularized by author J.R.R. Tolkien, describing a race of characters in his The Lord of the Rings books resembling Norse dwarfs. [31]

"Midget", whose etymology indicates a "tiny biting insect", [32] 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. [12] Later some 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. [9] [33] 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. [34]

Dwarf sports

Dwarfs are supported to compete in sport by a number of organisations nationally and internationally. [35]

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 Dwarf Sports Association UK organises between 5 and 20 events per month for athletes with restricted growth conditions in the UK. [36]

For instance, swimming and bicycling are often recommended for people with skeletal dysplasias, since those activities put minimal pressure on the spine. [37]

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. [38]

Art and media depictions

Ivory statuette of a female with dwarfism, Gerzeh culture (Naqada II), Prehistoric Egypt. Ivory statuette of a woman with dwarfism-IMG 4539-white.jpg
Ivory statuette of a female with dwarfism, Gerzeh culture (Naqada II), Prehistoric Egypt.
The Dwarf Don Sebastian de Morra, by Velazquez. Velazquez - Bufon don Sebastian de Morra (Museo del Prado, c. 1645).jpg
The Dwarf Don Sebastián de Morra , by Velázquez.

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. [39] [40]

The Bhagavat Purana Hindu text 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. [41] Recent scholarship has suggested that ancient Egyptians held dwarfs in high esteem. [42] Several important mythological figures of the North American Wyandot nation are portrayed as dwarfs. [43]

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, [44] 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_(2018 film).

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. [45]

See also

Related Research Articles

Ellis–van Creveld syndrome Human disease

Ellis–van Creveld syndrome is a rare genetic disorder of the skeletal dysplasia type.

Thanatophoric dysplasia osteochondrodysplasia that results in short arms and legs with excess folds of skin

Thanatophoric dysplasia is a severe skeletal disorder characterized by a disproportionately small ribcage, extremely short limbs and folds of extra skin on the arms and legs.

Short stature refers to a height of a human being which is below typical. Whether a person is considered short depends on the context. Because of the lack of preciseness, there is often disagreement about the degree of shortness that should be called short.

Kniest dysplasia Human disease

Kniest Dysplasia is a rare form of dwarfism caused by a mutation in the COL2A1 gene on chromosome 12. The COL2A1 gene is responsible for producing type II collagen. The mutation of COL2A1 gene leads to abnormal skeletal growth and problems with hearing and vision. What characterizes kniest dysplasia from other type II Osteochondrodysplasia is the level of severity and the dumb-bell shape of shortened long tubular bones. This condition was first diagnosed by Dr. Wilhelm Kniest in 1952. Dr. Kniest noticed that his 50 year old patient was having difficulties with restricted joint mobility. The patient had a short stature and was also suffering from blindness. Upon analysis of the patient's DNA, Dr. Kniest discovered that a mutation had occurred at a splice site of the COL2A1 gene. This condition is very rare and occurs less than 1 in 1,000,000 people. Males and females have equal chances of having this condition. Currently, there is no cure for kniest dysplasia. Alternative names for Kniest Dysplasia can include Kniest Syndrome, Swiss Cheese Cartilage Syndrome, Kniest Chondrodystrophy, or Metatrophic Dwarfism Type II.

Spondyloepiphyseal dysplasia congenita Human disease

Spondyloepiphyseal dysplasia congenita is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionally problems with vision and hearing. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends of bones (epiphyses), and that it is present from birth (congenital). The signs and symptoms of spondyloepiphyseal dysplasia congenita are similar to, but milder than, the related skeletal disorders achondrogenesis type 2 and hypochondrogenesis. Spondyloepiphyseal dysplasia congenita is a subtype of collagenopathy, types II and XI.

Spondyloepimetaphyseal dysplasia, Strudwick type Human disease

Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. The name of the condition indicates that it affects the bones of the spine (spondylo-) and two regions near the ends of bones. This type was named after the first reported patient with the disorder. Spondyloepimetaphyseal dysplasia, Strudwick type is a subtype of collagenopathy, types II and XI.

Chondrodystrophy refers to a skeletal disorder caused by one of myriad genetic mutations that can affect the development of cartilage. As a very general term it is only used in the medical literature when a more precise description of the condition is unavailable.

Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans.

Primordial dwarfism (PD) is a form of dwarfism that results in a smaller body size in all stages of life beginning from before birth. More specifically, primordial dwarfism is a diagnostic category including specific types of profoundly proportionate dwarfism, in which individuals are extremely small for their age, even as a fetus. Most individuals with primordial dwarfism are not diagnosed until they are about 3–5 years of age.

Osteochondrodysplasia or skeletal dysplasia is a general term for a disorder of the development (dysplasia) of bone ("osteo") and cartilage ("chondro").

Pseudoachondroplasia osteochondrodysplasia that has material basis in mutations in the COMP gene which results in short limb dwarfism

Pseudoachondroplasia is an inherited disorder of bone growth. It is a genetic autosomal dominant disorder. It is generally not discovered until 2-3 years of age, since growth is normal at first. Pseudoachondroplasia is usually first detected by a drop of linear growth in contrast to peers, a curious, waddling gait or arising lower limb deformities.

Aarskog–Scott syndrome is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies. This condition mainly affects males, although females may have mild features of the syndrome.

Laron syndrome congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration

Laron's syndrome, or Laron-type dwarfism, is an autosomal recessive disorder characterized by an insensitivity to growth hormone (GH), usually caused by a mutant growth hormone receptor. It causes short stature and an increased sensitivity to insulin which means that they are less likely to develop diabetes mellitus type 2 and possibly cancer as well. It can be treated with injections of recombinant IGF-1.

Fibroblast growth factor receptor 3 protein-coding gene in the species Homo sapiens

Fibroblast growth factor receptor 3 is a protein that in humans is encoded by the FGFR3 gene. FGFR3 has also been designated as CD333. The gene, which is located on chromosome 4, location p16.3, is expressed in tissues such as the cartilage, brain, intestine, and kidneys.

The Restricted Growth Association (RGA) is a UK charity that supports people with dwarfism.

Skull bossing

Skull bossing is a descriptive term in medical physical examination indicating a protuberance of the skull, most often in the frontal bones of the forehead. Although prominence of the skull bones may be normal, skull bossing may be associated with certain medical conditions, including nutritional, metabolic, hormonal, and hematologic disorders.

Severe achondroplasia with developmental delay and acanthosis nigricans autosomal dominant disease characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has material basis in heterozygous mutation in the FGFR3 gene on chromosome 4p16

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), is a very rare genetic disorder. This disorder is one that affects bone growth and is characterized by skeletal, brain, and skin abnormalities. Those affected by the disorder are severely short in height and commonly possess shorter arms and legs. In addition, the bones of the legs are often bowed and the affected have smaller chests with shorter rib bones, along with curved collarbones. Other symptoms of the disorder include broad fingers and extra folds of skin on the arms and legs. Developmentally, many individuals who suffer from the disorder show a higher level in delays and disability. Seizures are also common due to structural abnormalities of the brain. Those affected may also suffer with apnea, the slowing or loss of breath for short periods of time.

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Classification
D
External resources