What is Dwarfism? | Preventive Measures | Endocrinology


What is dwarfism?

Dwarfism is a small stature that comes from a genetic or medical condition. The dwarf is generally defined as an adult 4 feet 10 inches (147 cm) or less. The average adult height of a dwarf is 122 cm (4 feet).

Many different medical conditions can cause dwarfism. In general, the disorders fall into two broad categories:

  • Asymmetric dwarfism: If the body size is uneven, some parts of the body are small, others are average or above-average size. Defects that cause uneven dwarfism to inhibit bone development.
  • Proportional dwarfism: The body is proportionally smaller if all the parts of the body are equally small and appear in proportion to the body with average height. Medical conditions that appear at birth or in childhood limit overall growth and development.

Therefore, it is important to be sensitive to the preferences of those who suffer from this disorder. Short stature disorders do not have a familiar short stature, a small statue that is considered a normal variant with normal bone development.

Types of dwarfism

This is the most common type of dwarfism. As the name suggests, it is made up of parts of the body that are not equal to each other. For example. In some cases, the head of a person with asymmetrical although there are many causes for dwarfism, there are two main types of this condition: proportional and asymmetric.

This type of dwarfism is usually caused by a hormonal deficiency. It can often be treated with hormone injections while the child is still growing. As a result, anyone born with a proportionate dwarf can reach or approach average height. Asymmetric dwarfism may be slightly larger than that of a person without a dwarf.

Causes of dwarfism

Most dwarf-related conditions are genetic defects, but the causes of some disorders are unknown. Most cases of dwarfism are caused by a random genetic mutation in the father’s sperm or the mother’s egg, rather than the full genetic makeup of the parents.

  • Achondroplasia: Eighty per cent of people with achondroplasia are born to parents of average height. One person with achondroplasia and two middle-aged parents received a mutated copy of the gene associated with the disorder and a normal copy of the gene. The person with the disorder can send a regular or modified copy to their own child.
  • Turner syndrome: Turner syndrome affects only girls and women when the sex chromosome (X chromosome) is missing or partially missing. The player inherits the X chromosome from each parent. The girl with Turner syndrome has only one complete working copy of the female sex chromosome plus two.
  • Growth hormone deficiency: The cause of growth hormone deficiency can sometimes be identified by a genetic mutation or injury, but for most people with the disorder, the cause cannot be determined.
  • Other reasons: Other causes of dwarfism are other genetic defects, other hormonal disorders or a poor diet. Sometimes the reason is unknown.

Complications of dwarfism

Complications from dwarf-related disorders can vary greatly, but some complications are common to most conditions.

Asymmetric dwarf

Characteristic features of the skull, spine, and limbs are shared by highly uneven dwarfs, leading to some common problems:

  • Delayed development of motor skills, i.e. sitting, crawling and walking
  • Frequent ear infections and hearing loss.
  • Bent legs
  • Difficulty breathing during sleep (sleep apnea)
  • Excess fluid around the brain (hydrocephalus)
  • Fill teeth
  • Acute and progressive back pain with back pain or breathing problems
  • Narrowing of the canal in the lower spine (spinal stenosis), causing pressure on the spinal cord and subsequent pain or numbness in the legs
  • Arthritis
  • Weight gain can further complicate joint and spinal problems and put pressure on nerves

Dwarf Damasha

With the dwarf, growth and development problems often cause problems with undeveloped organs. For example, the heart problems that often occur with Turner syndrome can have a significant impact on health. The lack of sexual maturity associated with growth hormone deficiency or Turner syndrome affects both physical development and social functioning.

The pregnancy

Women with asymmetric dwarfism may experience breathing problems during pregnancy. Cesarean delivery (cesarean delivery) is almost always necessary because the size and shape of the pelvis do not allow for a successful vaginal delivery.

Social conscience

Most people with dwarfism prefer not to be conditionally labelled. However, some are dwarfs, small or tiny individuals. The term “dwarf” is generally considered a dangerous word. People of average height have myths about dwarves. Modern cinema often has stereotypes about dwarf representation.

Misconceptions affect a person’s self-esteem and limit their chances of success in school or employment. Children with dwarfism are subject to teasing and teasing from their classmates. Because the dwarf is so unusual, children feel isolated from their peers.

Symptoms & signs of dwarfism

A distinctive feature of the dwarf is an adult height of less than 2.3% on standard CDC growth maps. Physical symptoms are widespread. Differences in individuals can be identified by identifying and monitoring underlying disorders. Depending on its size, there may be no problems on the outside.

Short stature is a common substitute for the word “dwarf”, especially in the medical context. Short stature is clinically defined as being less than 2.3% of the general population. However, people with mild skeletal dysplasia may not be affected by dwarfism. In some cases of untreated hypochondroplasia, males can grow up to 5 feet 5 inches. Although it is relatively small, it does not fall into the extreme range of growth maps.

The asymmetric dwarf is characterized by short limbs or a compressed torso. In achondroplasia, one has a medium-sized trunk with small limbs and a large forehead. Facial features are often affected and individual parts of the body can be associated with them. Spinal stenosis, ear infection, and hydrocephalus are common. In the case of spinal dysostosis, there is a short trunk, with medium-sized organs.

Proportional dwarfism is characterized by a small torso with small limbs, leading to a below-average height. It can be for a long time without a significant increase. Sexual development is often delayed or impaired in adolescence. This type of dwarfism is caused by an endocrine disorder and is not skeletal dysplasia.

The physical effects of bad bones vary depending on the specific disease. Many people have joint pain caused by abnormal bone alignment or nerve compression. Early degenerative joint disease, exaggerated lordosis or scoliosis, and contraction of the spinal cord or nerve roots can cause pain and disability. The decrease in the size of the chest limits the growth of the lungs and reduces lung function. Some types of dwarfism are associated with abnormal functioning of other organs, such as the brain or liver, and sometimes with weakness rather than abnormal bone growth.

The psychological effects also vary depending on the specific underlying syndrome. In most cases of skeletal dysplasia, such as achondroplasia, mental function is not affected. However, there are syndromes that affect the cranial structure and brain growth, seriously damaging mental capacity. Unless the brain is directly affected by the underlying disorder, there is no chance that mental decline will cause dwarfism.

Social prejudice against extreme scarcity reduces social and marriage opportunities. Several studies have shown reduced employment opportunities. Severe shortages are associated with low income. Self-esteem can be damaged and family relationships can be affected.

Extremely short (less than 2-3 feet [60-90 cm), if not accommodated, it can interfere with daily activities like driving or using countertops built for tall people. Children with dwarfism are particularly vulnerable to teasing and ridicule from their classmates. Because the dwarf is relatively unusual, children can feel isolated from their peers.

Preventive measures

Many types of dwarfism are currently genetically inaccessible and cannot be prevented. Genetic conditions that cause dwarfism can be identified with genetic testing, examining the specific variants that cause this condition. However, due to the number of causes of dwarfism, it is impossible to determine with certainty whether a child was born with dwarfism.

Dwarfism caused by malnutrition or hormonal abnormalities can be treated with a proper diet or hormonal therapy. Growth hormone deficiency can be corrected early in life by injections of human growth hormone (HGH).

Diagnosis of dwarfism

Your pediatrician will look at several factors to assess your child’s growth and find out if he or she has a dwarf-related disorder. In some cases, an uneven dwarf may be suspected during a prenatal ultrasound if too few organs are found other than asymmetric to the trunk.

Diagnostic tests can include:

  • Dimensions: A common component of a well-baby physical is a measurement of height, weight, and head circumference. At each visit, your pediatrician will plot these measurements on a table to show your child’s current percentile ranking. It is important to detect abnormal growth, such as stunted growth or an irregularly large head. If any of the trends in these charts are cause for concern, your pediatrician may take measurements more frequently.
  • Appearance: Many different facial and skeletal features are associated with many dwarf disorders. Your child’s performance can help your pediatrician make a diagnosis.
  • Imaging technology: Your doctor may order imaging tests, such as X-rays because some skull and skeletal abnormalities can indicate what disorder your child has. Various imaging devices for growth hormone deficiency also reveal a delay in bone maturation. Magnetic resonance imaging (MRI) reveals abnormalities of the pituitary gland or hypothalamus, both of which play a role in hormonal function.
  • Genetic testing: Genetic tests are available for many known genes for dwarf-related disorders, but these tests are not usually necessary for accurate testing. Your doctor may prescribe a test only when other tests are unclear or as part of subsequent family planning to identify possible diagnoses. If your pediatrician thinks your daughter has Turner syndrome, she may have a specialized laboratory test to evaluate the X chromosomes taken from blood cells.
  • Family history: Your pediatrician may be short in stature among siblings, parents, grandparents, or other relatives, and can help determine if the average height range in your family is short.

Dwarfism treatment

The goal of treatment is to increase performance and independence.

Surgical treatments

Surgical procedures to correct problems in people with asymmetric dwarfism:

  • Correct the direction of bone growth
  • Stabilize and correct the shape of the spine
  • Increase the size of the opening in the bones of the spine (vertebrae) to reduce pressure on the spine
  • Placement of a shunt around the brain (hydrocephalus) to remove excess fluid

Hormonal therapy

For those with dwarfism due to growth hormone deficiency, treatment with injections of the synthetic version of the hormone can increase the final height. In most cases, children receive daily injections for many years until they reach the maximum height of adults, often within the range of average adults for their family.

Treatment can be continued through adolescence and into adolescence to ensure adult maturities, such as adequate muscle or fat gain. Some people may need lifelong treatment. Treatment can also replace them if they are deficient in other hormones.

Girls with Turner syndrome need estrogen and related hormone therapy for treatment as they begin puberty and reach adult sexual development. Estrogen replacement therapy generally lasts a lifetime for women with Turner syndrome until the average age of menopause. Growth hormone replacement for children with achondroplasia does not increase late adult height.

Ongoing medical care

Regular checkups and ongoing care from a doctor familiar with the dwarf will improve the quality of life. Due to the variety of symptoms and complications, the therapies are suitable for the diagnosis and treatment of ear infections, as well as for treating complications such as spinal stenosis or sleep apnea.

Adults with dwarfism must continue to monitor and treat problems that occur throughout life.

Limb length

Some people with dwarfism have a surgery called extended limb lengthening. This procedure is controversial for most people with dwarfism because, like all surgeries, there are also risks. Due to the mental and physical stress associated with multiple procedures, it is advisable to wait until the person with dwarfism is old enough to participate in the decision to determine the length of the organ.

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