Short stature

Last updated
Short stature
Specialty Endocrinology   OOjs UI icon edit-ltr-progressive.svg

Short stature refers to a height of a human 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. Dwarfism is the condition of being very short, often caused by a medical condition. In a medical context, short stature is typically defined as an adult height that is more than two standard deviations below a population’s mean for age and sex, which corresponds to the shortest 2.3% of individuals in that population. [1]

Contents

In popular culture, the Napoleon complex, also known as "Napoleon syndrome" and "short man syndrome", is a purported condition normally attributed to people of short stature, with overly aggressive or domineering social behavior, and is named after Napoleon Bonaparte, the first Emperor of the French, who was estimated to have been 5' 2" tall (in pre–metric system French measures), which equals around 1.67 meters, or just under 5' 6" in imperial measure. [2]

Shortness in children and young adults nearly always results from below-average growth in childhood, while shortness in older adults usually results from loss of height due to kyphosis of the spine or collapsed vertebrae from osteoporosis. The most common causes of short stature in childhood are constitutional growth delay or familial short stature. [ citation needed ]

From a medical perspective, severe shortness can be a variation of normal, resulting from the interplay of multiple familial genes. It can also be due to one or more of many abnormal conditions, such as chronic (prolonged) growth hormone or thyroid hormone deficiency, malnutrition, disease of a major organ system, mistreatment, treatment with certain drugs, chromosomal deletions. Human growth hormone (HGH) deficiency may occur at any time during infancy or childhood, with the most obvious sign being a noticeable slowing of growth. The deficiency may be genetic. Among children without growth hormone deficiency, short stature may be caused by Turner syndrome or Noonan syndrome, chronic kidney disease, being small for gestational age at birth, Prader–Willi syndrome, Wiedemann-Steiner syndrome, or other conditions. Genetic skeletal dysplasias also known as osteochondrodysplasia usually manifest in short-limbed disproportionate short stature. [3] [4]

When the cause is unknown, it is called idiopathic short stature . [5] Short stature can also be caused by the bone plates fusing at an earlier age than normal, therefore stunting growth. Normally, the bone age is the same as the biological age but for some people, it is older. For many people with advanced bone ages, they hit a growth spurt early on which propels them to average height but stop growing at an earlier age. However, in some cases, people who are naturally shorter combined with their advanced bone age, end up being even shorter than the height they normally would have been because of their stunted growth.

Classification

Chronic illnesses, malnutrition, endocrine, metabolic disorders or chromosomal anomalies are characterized by proportionate short stature. On the other hand, most genetic skeletal dysplasias are known for short stature that may be proportionate or disproportionate. Disproportionate short stature can be further subdivided as specified by the body segments affected by shortening, namely limbs versus trunk: [3] [4]

Short-limb short stature can be further subcategorised in accordance with limb segment affected by shortening. These subcategories of limb shortening include, rhizomelic (humerus and femur), mesomelic (radius, ulna, tibia and fibula) and acromelic (hands and feet). Anthropometric measurements provide are very beneficial tools to the diagnostic process of genetic skeletal dysplasias. The anthropometric measurements include height, sitting height, arm span, upper/ lower-body segment ratio, sitting height/height ratio, and arm span/height ratio for age. They also aid in the differential diagnosis of skeletal dysplasia subtypes. [3]

Treatment

The decision to treat is based on a belief that the child will be disabled by being extremely short as an adult, so that the risks of treatment (including sudden death [5] ) will outweigh the risks of not treating the symptom of short stature. Although short children commonly report being teased about their height, most adults who are very short are not physically or psychologically disabled by their height. [5] However, there is some evidence to suggest that there is an inverse linear relationship with height and with risk of suicide. [6]

Treatment is expensive and requires many years of injections with human growth hormones. The result depends on the cause, but is typically an increase in final height of about 5 to 10 centimetres (2.0 to 3.9 in) taller than predicted. [5] Thus, treatment takes a child who is expected to be much shorter than a typical adult and produces an adult who is still obviously shorter than average. For example, several years of successful treatment in a girl who is predicted to be 146 centimetres (4 ft 9 in) as an adult may result in her being 151 centimetres (4 ft 11 in) instead. [ citation needed ]

Increasing final height in children with short stature may be beneficial and could enhance health-related quality of life outcomes, barring troublesome side effects and excessive cost of treatments. [7] [ dead link ]

Cost

The cost of treatment depends on the amount of growth hormone given, which in turn depends on the child's weight and age. One year's worth of drugs normally costs about US$20,000 for a small child and over $50,000 for a teenager. [5] These drugs are normally taken for five or more years.[ citation needed ]

Cultural, social and economic issues

From a social perspective, shortness can be a problem independent of the cause. In many societies there are advantages associated with taller stature and disadvantages associated with shorter stature, and vice versa.[ citation needed ]

In popular culture, the Napoleon complex, also known as "Napoleon syndrome" and "short man syndrome", is a purported condition normally attributed to people of short stature, with overly aggressive or domineering social behavior, and is named after Napoleon Bonaparte, the first Emperor of the French, who was estimated to have been 5' 2" tall (in pre–metric system French measures), which equals around 1.67 meters, or just under 5' 6" in imperial measure. [8]

Short stature as a disease

Pharmaceutical companies Genentech and Eli Lilly, makers of human growth hormone, have worked to medicalize short stature by convincing the public that short stature is a disease rather than a natural variation in human height. Limiting sales of the hormone to children diagnosed with growth hormone deficiency, rather than being short for any reason, limited their sales market. [9] Expanding it to all children whose height was below the third percentile would create 90,000 new customers and US$10 billion in revenue. [10] In the early 1990s, they paid two US charities, the Human Growth Foundation and the MAGIC Foundation, to measure the height of thousands of American children in schools and public places, and to send letters urging medical consultations for children whose height was deemed low. Parents and schools were not told that the charities were being paid by the drug companies to do this. [9] [10]

Paired with a campaign to advertise the hormone to physicians, the campaign was successful, and tens of thousands of children began receiving HGH. About half of them do not have growth hormone deficiency, and consequently benefited very little, if at all, from the hormone injections. Criticism of the universal screening program eventually resulted in its end. [10]

Advantage

Short stature decreases the risk of venous insufficiency. [11]

History

During World War I in Britain, the minimum height for soldiers was 5 feet 3 inches (160 cm). Thus thousands of men under this height were denied the opportunity to fight in the war. As a result of pressure to allow them entry, special "Bantam Battalions" were created composed of men who were 4 feet 10 inches (147 cm) to 5 feet 3 inches (160 cm). By the end of the war there were 29 Bantam Battalions of about 1,000 men each. Officers were of normal size. [12]

See also

Related Research Articles

Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. It is the most common cause of dwarfism and affects about 1 in 27,500 people. 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 can include an enlarged head with prominent forehead and underdevelopment of the midface. Complications can include sleep apnea or recurrent ear infections. Achondroplasia includes the extremely rare short-limb skeletal dysplasia with severe combined immunodeficiency.

<span class="mw-page-title-main">Dwarfism</span> Small size of an organism, caused by growth deficiency or genetic mutations

Dwarfism is a condition of people and animals marked by unusually small size or short stature. In humans, it is sometimes defined as an adult height of less than 147 centimetres, regardless of sex; the average adult height among people with dwarfism is 120 centimetres (4 ft). 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. Intelligence is usually normal, and most people with it have a nearly normal life expectancy. People with dwarfism can usually bear children, although there are additional risks to the mother and child depending upon the underlying condition.

<span class="mw-page-title-main">Growth hormone</span> Peptide hormone that stimulates growth

Growth hormone (GH) or somatotropin, also known as human growth hormone in its human form, is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration in humans and other animals. It is thus important in human development. GH also stimulates production of insulin-like growth factor 1 (IGF-1) and increases the concentration of glucose and free fatty acids. It is a type of mitogen which is specific only to the receptors on certain types of cells. GH is a 191-amino acid, single-chain polypeptide that is synthesized, stored and secreted by somatotropic cells within the lateral wings of the anterior pituitary gland.

<span class="mw-page-title-main">Mucopolysaccharidosis</span> Medical condition

Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. GAGs are also found in the fluids that lubricate joints.

<span class="mw-page-title-main">Growth hormone deficiency</span> Medical condition

Growth hormone deficiency (GHD), or human growth hormone deficiency, is a medical condition resulting from not enough growth hormone (GH). Generally the most noticeable symptom is that an individual attains a short height. Newborns may also present low blood sugar or a small penis size. In adults there may be decreased muscle mass, high cholesterol levels, or poor bone density.

Growth hormone therapy refers to the use of growth hormone (GH) as a prescription medication—it is one form of hormone therapy. Growth hormone is a peptide hormone secreted by the pituitary gland that stimulates growth and cell reproduction. In the past, growth hormone was extracted from human pituitary glands. Growth hormone is now produced by recombinant DNA technology and is prescribed for a variety of reasons. GH therapy has been a focus of social and ethical controversies for 50 years.

Delayed puberty is when a person lacks or has incomplete development of specific sexual characteristics past the usual age of onset of puberty. The person may have no physical or hormonal signs that puberty has begun. In the United States, girls are considered to have delayed puberty if they lack breast development by age 13 or have not started menstruating by age 15. Boys are considered to have delayed puberty if they lack enlargement of the testicles by age 14. Delayed puberty affects about 2% of adolescents.

<span class="mw-page-title-main">Bone age</span> Degree of a persons skeletal development

Bone age is the degree of a person's skeletal development. In children, bone age serves as a measure of physiological maturity and aids in the diagnosis of growth abnormalities, endocrine disorders, and other medical conditions. As a person grows from fetal life through childhood, puberty, and finishes growth as a young adult, the bones of the skeleton change in size and shape. These changes can be seen by x-ray and other imaging techniques. A comparison between the appearance of a patient's bones to a standard set of bone images known to be representative of the average bone shape and size for a given age can be used to assign a "bone age" to the patient.

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.

An osteochondrodysplasia, or skeletal dysplasia, is a disorder of the development of bone and cartilage. Osteochondrodysplasias are rare diseases. About 1 in 5,000 babies are born with some type of skeletal dysplasia. Nonetheless, if taken collectively, genetic skeletal dysplasias or osteochondrodysplasias comprise a recognizable group of genetically determined disorders with generalized skeletal affection. These disorders lead to disproportionate short stature and bone abnormalities, particularly in the arms, legs, and spine. Skeletal dysplasia can result in marked functional limitation and even mortality.

Rhizomelia refers to either a disproportion of the length of the proximal limb, such as the shortened limbs of achondroplasia, or some other disorder of the hip or shoulder.

<span class="mw-page-title-main">Multiple epiphyseal dysplasia</span> Rare genetic disorder

Multiple epiphyseal dysplasia (MED), also known as Fairbank's disease, is a rare genetic disorder that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate near their ends. As it expands outward from the growth plate, the cartilage mineralizes and hardens to become bone (ossification). In MED, this process is defective.

<span class="mw-page-title-main">Pseudoachondroplasia</span> Inherited disorder of bone growth

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 waddling gait or arising lower limb deformities.

<span class="mw-page-title-main">Laron syndrome</span> Medical condition

Laron syndrome (LS), also known as growth hormone insensitivity or growth hormone receptor deficiency (GHRD), is an autosomal recessive disorder characterized by a lack of insulin-like growth factor 1 production in response to growth hormone. It is usually caused by inherited growth hormone receptor (GHR) mutations.

The MAGIC Foundation is an American non-profit organization which helps families of children diagnosed with a wide variety of different growth impacting medical conditions through education, networking, physician referrals and numerous other services. It was founded in 1989. It is maintained through a network of volunteers and a full-time staff of five people. Their services include public education and awareness, quarterly newsletters, national networking, an annual convention, disorder specific brochures, and a Kids Program.

Acrodysostosis is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, intellectual disability in approximately 90% of affected children, and peculiar facies. Other common abnormalities include short head, small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur.

<span class="mw-page-title-main">Aromatase deficiency</span> Medical condition

Aromatase deficiency is a rare condition characterized by extremely low levels or complete absence of the enzyme aromatase activity in the body. It is an autosomal recessive disease resulting from various mutations of gene CYP19 (P450arom) which can lead to ambiguous genitalia and delayed puberty in females, continued linear growth into adulthood and osteoporosis in males and virilization in pregnant mothers. As of 2020, fewer than 15 cases have been identified in genetically male individuals and at least 30 cases in genetically female individuals.

Langer Mesomelic Dysplasia (LMD) is a rare congenital disorder characterised by altered bone formation, which typically causes affected individuals to experience shortening of the bones of the extremities as well as an abnormally short stature.

Acromesomelic dysplasia is a rare skeletal disorder that causes abnormal bone and cartilage development, leading to shortening of the forearms, lower legs, hands, feet, fingers, and toes. Five different genetic mutations have been implicated in the disorder. Treatment is individualized but is generally aimed at palliating symptoms, for example, treatment of kyphosis and lumbar hyperlordosis.

<span class="mw-page-title-main">SOFT syndrome</span> Medical condition

SOFT syndrome, also known for the name its acronym originates from: Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, is a rare genetic disorder characterized by the presence of short stature, underdeveloped nails, facial dysmorphisms, and hair sparcity across the body. It is caused by homozygous, autosomal recessive mutations in the POC1A gene, located in the short arm of chromosome 3. Fewer than 15 cases have been described in the medical literature.

References

  1. Pedicelli S, Peschiaroli E, Violi E, Cianfarani S (2009). "Controversies in the definition and treatment of idiopathic short stature (ISS)". J Clin Res Pediatr Endocrinol. 1 (3): 105–15. doi:10.4008/jcrpe.v1i3.53. PMC   3005647 . PMID   21274395.
  2. "Was Napoleon Short? Origins of the 'Napoleon Complex'". 25 July 2023.
  3. 1 2 3 Gamal, Radwa; Elsayed, Solaf M.; El-Sobky, Tamer Ahmed; Elabd, Heba Salah (2017). "Pseudoachondroplasia in a child: The role of anthropometric measurements and skeletal imaging in differential diagnosis". The Egyptian Journal of Radiology and Nuclear Medicine. 48: 245–250. doi: 10.1016/j.ejrnm.2016.10.007 .
  4. 1 2 Panda, Ananya; Gamanagatti, S.; Jana, M.; Gupta, A. K. (2014). "Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias". World Journal of Radiology. 6 (10): 808–825. doi: 10.4329/wjr.v6.i10.808 . PMC   4209426 . PMID   25349664.
  5. 1 2 3 4 5 Allen DB (July 2006). "Growth hormone therapy for short stature: is the benefit worth the burden?". Pediatrics. 118 (1): 343–8. doi:10.1542/peds.2006-0329. PMID   16818584. S2CID   10045158.
  6. Magnusson, Patrik K. E.; Gunnell, David; Tynelius, Per; Davey Smith, George; Rasmussen, Finn (July 2005). "Psychiatry Online Strong Inverse Association Between Height and Suicide in a Large Cohort of Swedish Men: Evidence of Early Life Origins of Suicidal Behavior?". American Journal of Psychiatry. 162 (7): 1373–1375. doi:10.1176/appi.ajp.162.7.1373. PMID   15994722 . Retrieved 2014-02-25.
  7. "Was Napoleon Short? Origins of the 'Napoleon Complex'". 25 July 2023.
  8. 1 2 Brody, Howard (2007). Hooked: ethics, the medical profession, and the pharmaceutical industry . Lanham, Md: Rowman & Littlefield. p.  236. ISBN   978-0-7425-5218-0.
  9. 1 2 3 Valenstein, Elliot S. (2002). Blaming the Brain : The Truth About Drugs and Mental Health. New York: Free Press. pp. 173–174. ISBN   978-0-7432-3787-1.
  10. "Tall height".
  11. Tom de Castella (8 February 2015). "Bantams: The army units for those under 5ft 3in". BBC News Magazine. Retrieved February 9, 2015.