Common health issue

Dwarfism ( Growth Hormone Deficiency ) : Types, Etiology, Clinical Features, Treatment And Prevention.


What Do You Mean By Dwarfism?

The term often refers to most of the children or adolescents who are significantly below the average height of their peer group. Inadequate secretion of growth hormone GH from the pituitary gland manifested by abnormally short height gain that is less than 4cm height gain per year is considered dwarfism.

Dwarfism is a nonspecific finding that may be 1st manifestation of a severe disorder.

Types Of Dwarfism

Though there are many causes of dwarfism, there are mainly two types of the condition that is :

  1. Proportionate dwarfism: When the head, trunk, and limbs are all proportionate to each other, but smaller than those of an average-sized person then this condition is known to be proportionate dwarfism.
  2. Disproportionate dwarfism: This is the most common type of dwarfism than of proportionate dwarfism. As the name suggests, it’s characterized by having body parts that are disproportionate to each other. In some cases, the head of a person with disproportionate dwarfism may be a bit larger than that of a person without dwarfism.

What Are The Etiology?

In most cases of dwarfism, no clear issue is found for some possible causes, they are:

  • Congenital or developmental defect; aplasia
  • Intracranial tumors
  • Autoimmune inflammation of the pituitary gland
  • Functional delay(Psychosocial, anorexia nervosa)
  • brain injury which may be due to radiation, trauma, surgery
  • A genetic disorder like turner’s syndrome and down’s syndrome
  • Familial: history of dwarfism in the family
  • Constitutional delay: The child has a delayed growth spurt and pubertal development without any abnormality. The child achieves average height.


Other causes of dwarfism are Spondyloepiphyseal dysplasia congenital, Noonan syndrome, Primordial dwarfism, Cockayne syndrome, Turner syndrome, and Hypothyroidism. Severe shortness with skeletal distortion also occurs in several of the conditions such as  Mucopolysaccharidoses and other disorders. Hypogonadotropic hypogonadism may cause temporary dwarfism.

Serious chronic illness may cause dwarfism as a side effect. Harsh environmental conditions, such as malnutrition are also one of the factors that can cause dwarfism. Dwarfism is indirect consequences of the generally unhealthy as well as the malnourished condition of the individual and it’s not any specific disease. Dwarfism often takes the form of simple short stature, without any deformities which lead to proportionate dwarfism. Sometimes there is no definitive cause of dwarfism.

Clinical Features

  • Short stature ( chief presentation)
  • Height retardation than weight so child looks obese
  • Delayed skeletal maturation
  • Looks younger, cherubic face
  • Delay eruption of the permanent teeth, overcrowded teeth
  • Most children have normal intelligence but appear early maturation
  • Emotional problem due to looks younger in group
  • Delayed or normal sexual development, if deficiency of gonadotropin, absence of sexual maturation.
  • Vision and hearing problem
  • Problem with joint movement
  • Cleft palate
  • Limited mobility
  • Progressive development of bowed leg
  • A disproportionately large head
  • Shortened arm and legs
  • Broad rounded chest

Management And Treatment Of Dwarfism

A child’s dwarfism will often affect the self-esteem of the child. Providing emotional support which is an important part of treatment. Children may be teased by classmates and friends. Family, friends, and teachers should be sure to emphasize the skills and strength of the child.

  1. Treatment involves growth hormone replacement in which the hormone is administered subcutaneously in dose 0.15 to 0.35 mg/kg/week in divided dose for children and up to 0.7 mg/kg/week in divided dose for adolescents (expected outcome in 5-10 cm increase in height).

The best time for the administration of growth hormone is before bed. After the child has obtained optimum height, the hormone is discontinued for several weeks which may cause dwarfism.

Pain and disability may be ameliorated by physical therapy, braces, or other orthotic devices. It can also be treated by surgical removal or radiation therapy may also be needed in case of the tumor. The only simple intervention that increases perceived adult height is dress enhancements, such as shoe lifts and hairstyles. Growth hormone is rarely used for shortness caused by bone dysplasia since the height benefit is typically small that is less than 5cm 2 inch and the cost high. The most effective method for increasing adult height is by several inches is distraction osteogenesis, though the availability is limited and the cost is high in terms of money and discomfort. Most people with dwarfism do not choose this kind of option, and it remains controversial.

How Can Dwarfism Be Prevented?

Many types of dwarfism are currently impossible to prevent because most of them are caused genetically. Genetic conditions that cause dwarfism may be detected 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 possible to determine definitively if a child will be born with dwarfism or not.

Dwarfism resulting from malnutrition or a hormonal abnormality may be treated with an appropriate diet and also hormonal therapy. Growth hormone deficiency may be remedied via injection of human growth hormone during the early period of life.