DWARFISM

03 Jun 2019

ABSTRACT –

When a person’s natural height is shorter than average due to genetic factors or medical conditions is called Dwarfism. These individuals under this category have a height of 4 feet or less than that. Dwarfism are of two types: Disproportionate Dwarfism and Proportionate Dwarfism. Body parts in Disproportionate Dwarfism (Achondroplasia) are unequal and shorter due to uneven growth of bones. Proportionate Dwarfism also has shorter body parts but in proportionate manner.

CAUSES –

  • Mutated copy of gene from two average sized parents
  • Turner Syndrome- Affects only females when X chromosome is missing or partially missing rather than 2 whole chromosomes
  • Growth Hormone Deficiency
  • Genetic Disorders
  • Deficiency in other hormones
  • Poor Nutrition
  • Pre existing diseases like HIV worsens Psoriasis
  • Other skin and body infections because of bacteria and other microbes

SIGNS AND SYMPTOMS –

  • Height of 4 feet or less
  • Short neck and body structure
  • Short arms and legs (especially upper arms and upper legs)
  • Limited elbow movement
  • Disproportionate large head with flattened nasal bridge
  • Bowed legs

DIAGNOSIS –

  • Appearance of body structure and features
  • Short and disproportionate limbs are noted in Prenatal Ultrasound
  • Measurements of height, weight and head circumference of child to identify delay or   abnormal growth
  • X-rays for abnormalities in skull and skeleton
  • MRI to diagnose abnormalities in pituitary gland or hypothalamus
  • Genetic Tests and hormones tests
  • Family history

TREATMENT –

  1. Surgery – It is the most preferred treatment for dwarfism. It corrects
    • Direction in which bones are growing
    • Shape of spine
    • Increase size of opening in spine bones
    • Removes excess fluid around the brain
  2. Hormone Therapy – This does not help much in the case of Achondroplasia. This is done using injections to increase height. In Turner’s syndrome, it is required to be treated with Estrogen and related hormone therapy to begin puberty and sexual development.
  3. Regular checkup and health care
  4. Extended limb lengthening surgery

RISK FACTORS –

  • Hormone Deficiency
  • Inherited Genetic Factors
  • Malnutrition

EPIDEMIOLOGY –

  • Occurring in all races and ethnicities, it has been estimated that there are around 6,51,000 people who are affected because of Dwarfism

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