Dwarfism

Subject: Child Health Nursing

Overview

Short stature is a symptom of dwarfism. As a result of a medical or genetic condition, it is described by the advocacy group Little People of America (LPA) as adult height of 4 feet 10 inches or below. The average height of an adult with dwarfism is 4 feet, despite the fact that other groups may raise the standard for some forms of dwarfism to 5 feet. The majority of illnesses connected to dwarfism are genetic, while other ailments have unidentified origins. Turner syndrome is a condition that only affects girls and women and is caused when a sex chromosome) is missing or partially absent. Achondroplasia is a condition when a person has one mutant copy of the gene associated with the disorder and one normal copy of the gene. Growth hormone insufficiency can occasionally be linked to a genetic mutation or injury, but for the majority of those affected, there is no known reason. Some of the issues related to dwarfism can be avoided or at least reduced with early diagnosis and treatment. Growth hormone can be used to treat people with dwarfism brought on by a lack of the hormone. Because many varieties of dwarfism are hereditary in nature, they are now incurable. Genetic testing can detect disorders that lead to dwarfism by looking for the precise variant that causes the condition.

Dwarfism

Dwarfism is a medical condition in which a person is short in stature as a result of a pituitary gland issue that causes the person's growth to be significantly slowed or delayed.

Dwarfism can be divided into two primary categories: proportional and disproportionate. Disproportionate dwarfism can either have a truncated trunk with longer limbs or a normal-sized torso with shorter arms and legs. The physical parts are in proportion but shorter in proportionate dwarfism.

Causes:

  • Metabolic or hormonal disorders in infancy or childhood.
  • Chromosomal abnormalities
  • Pituitary Gland Disorders-which influence growth and metabolism
  • Absorptive problems when the body can't absorb nutrients adequately
  • Kidney disease
  • Achondroplasia
  • Turner syndrome
  • Genetic

Signs and symptoms:

  • Late development of certain motor skills, such as sitting up or walking
  • Increased susceptibility to ear infections
  • Breathing problems
  • Weight problems
  • A curvature of the spine
  • Bowed legs
  • Joint stiffness and arthritis
  • lower back pain or numbness in the legs
  • Crowding of teeth

Tests and diagnosis

  • Measurement: - 
    • The measurement of height, weight, and head circumference.
  • Appearance: -
    • Many distinct facial and skeletal features are associated with each of several dwarfism disorders.
  • Imaging technology: -  
    • Abnormalities of the skull and skeleton can indicate which disorder child may have. A magnetic resonance imaging (MRI) scan may reveal abnormalities of the pituitary gland or hypothalamus,
  • Genetic tests: -
    • It is likely to suggest a test only to distinguish among possible diagnoses when other evidence is unclear or as a part of further family planning. s.
  • Family history-
    • Take a history of stature in siblings, parents, grandparents or other relatives to help determine whether the average range of height in your family includes short stature.
  • Hormone tests:-
    • It assess levels of growth hormone or other hormones that are critical for childhood growth and development.

Prevention:

  • Genetically caused, impossible to prevent. Genetic conditions that cause dwarfism may be identified with genetic testing, by screening for the specific variation that results in the condition. It may be impossible to determine definitively if a child will be born with dwarfism, however, due to the number of causes of dwarfism
  • With an appropriate diet or hormonal therapy Dwarfism resulting from malnutrition or a hormonal abnormality may be treated. Growth hormone deficiency may be remedied via injections of human growth hormone (HGH)during early life.

Treatment

  • Dwarfism’s treatments don't increase stature but may alleviate problems caused by complications
  • Surgical procedures that may correct problems with bones in people with disproportionate dwarfism
  • Some people with dwarfism elect to undergo limb-lengthening surgery.
  • Growth hormone deficiency is treated with injections of a synthetic version of the hormone

Complications:

  • Arthropathy
  • Cataracts
  • Raised intraocular pressure
  • Disproportionate short stature
  • Retinal detachment

Nursing management:

  • Nurses should be familiar with a child's typical growth and development as well as the need to regularly check a child's weight and height and keep accurate records.
  • help with making a diagnosis.
  • Support the parent and child emotionally.
  • Give health instruction.
  • Give them the chance to voice their thoughts on sexual function and body appearance.
  • Furniture and other necessities, such as beds, chairs, and dresses, should be made to fit children's sizes for comfort.

 

 
Things to remember
  • Dwarfism is a condition of short stature. It is defined by the advocacy group Little People of America (LPA) as an adult height of 4 feet 10 inches or under, as a result of a medical or genetic condition.
  • Although other groups may extend the criteria for certain forms of dwarfism to 5 feet, the average height of an adult with dwarfism is 4 feet.
  • There are two main categories of dwarfism -- disproportionate and proportionate.
  • Most dwarfism-related conditions are genetic disorders, but the causes of some disorders are unknown.
  • A person with achondroplasia and with two average-size parents received one mutated copy of the gene associated with the disorder and one normal copy of the gene.
  • Turner syndrome, a condition that affects only girls and women, results when a sex chromosome (the X chromosome) is missing or partially missing.
  • Early diagnosis and treatment can help prevent or lessen some of the problems associated with dwarfism. People with dwarfism related to growth hormone deficiency can be treated with growth hormone.
  • 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.
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Questions and Answers

Short stature is a symptom of dwarfism. As a result of a medical or genetic condition, it is described by the advocacy group Little People of America (LPA) as adult height of 4 feet 10 inches or below. The average height of an adult with dwarfism is 4 feet, despite the fact that other groups may raise the standard for some forms of dwarfism to 5 feet.

Achondroplasia

Achondroplasia affects about 80% of newborns whose parents are average height. One mutant copy of the disorder-related gene and one normal copy of the gene were given to an individual with achondroplasia who had two average-sized parents. Either a mutant or normal copy of the disease may be passed on to a person's own children.

Turner syndrome

Only girls and women are afflicted by Turner syndrome, which is caused by a sex chromosome (the X chromosome) being absent or partially absent. Each parent gives an X chromosome to a female. One rather than two fully functional copies of the female sex chromosome are present in a girl with Turner syndrome.

Nursing management:

  • The normal growth and development of children should be understood by nurses, who should also regularly examine physical characteristics such a child's height and weight and keep accurate records.
  • Help with making a diagnosis.
  • Support the parent and child emotionally.
  • Give health instruction.
  • Give people the chance to express their thoughts on sexual function and body appearance.
  • Furniture and other necessities, such as beds, chairs, and dresses, should be made to fit children's sizes for comfort.

Tests and diagnosis

  • Measurement: The measurement of a baby's height, weight, and head circumference are standard components of a well-baby physical examination.
  • Appearance: Each of the various dwarfism disorders is characterized by a wide variety of distinctive facial and skeletal features.
  • Imaging technology: X-rays are used because specific skeleton and skull abnormalities can point to a child's disorder. The pituitary gland or the hypothalamus may exhibit abnormalities when subjected to an MRI scan.
  • Genetic tests: When other evidence is ambiguous or as part of further family planning, it is likely to be recommended to run a test solely to distinguish between potential diagnoses. 
  • Family history: Take a look at the stature of your siblings, parents, grandparents, or other family members to see if low stature is present in your family's average range of heights.
  • Hormone tests: Evaluate the presence of growth hormone or other hormones important for the growth and development of children.

Prevention:

  • Because many varieties of dwarfism are hereditary in nature, they are now incurable. Genetic testing can detect disorders that lead to dwarfism by looking for the precise variant that causes the condition. However, given the variety of causes of dwarfism, it might not be feasible to say for sure whether a kid would be born with the condition.
  • An proper diet or hormonal therapy may be used to treat dwarfism brought on by malnutrition or a hormonal imbalance. Human growth hormone (HGH) injections can be used to treat growth hormone deficiency in young children.

Treatment

  • Treatments for dwarfism do not raise height but may lessen complications' difficulties.
  • techniques that could fix bone issues in individuals with disproportionate dwarfism
  • With dwarfism, some people choose to have limb-lengthening surgery.
  • Treatment for growth hormone shortage involves injecting a synthetic form of the hormone.

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