Dwarfism

What is Dwarfism?

Dwarfism is a condition in which a genetic or medical issue causes short stature. By most definitions, a person is considered to have dwarfism when their adult height does not pass four feet ten inches. The average height is around four feet. Most commonly, it is due to a type of genetic mutation called skeletal dysplasia that affects the patient’s bone growth, although there are more than two hundred conditions that can result in dwarfism.

Dwarfism is subdivided into two main categories: proportionate and disproportionate. Patients with proportionate dwarfism develop relatively normally in terms of how their body is proportioned. They are simply much shorter than the average human. Disproportionate dwarfism, on the other hand, generally leaves a person with short limbs and an average-sized trunk or a short torso and long legs and arms.

What are the Symptoms of Dwarfism?

The most notable symptom of dwarfism is the short stature associated with the condition.

Additionally, depending on the underlying cause, patients may experience:

  • Delayed development
  • Slow growth
  • Delayed puberty
  • Bow legs
  • Enlarged head
  • Physical deformity
  • Hunched back
  • Scoliosis
  • Protruding jaw
  • Crowded and/or misaligned teeth
  • Flat, club, broad, or short feet
  • Cleft palate
  • Breathing issues
  • Prone to ear infections
  • Arthritis
  • Weight problems

Dwarfism Causes

Dwarfism tends to be most often associated with growth hormone deficiency. The lack of growth hormone prevents the bone growth necessary for significant height increase. This is usually the result of genetics, but there are times when growth hormone deficiency is caused by the environment. A great example of this is psychosocial dwarfism. In this form of the disease, persons experiencing high levels of stress become so distraught they are unable to experience growth. The result is an abnormally short stature. Vitamin deficiency is also implicated in growth hormone related dwarfism.

Outside of hormone deficiency, dwarfism may have other causes. Achrondoplasia accounts for nearly 70% of all dwarfism cases. The condition causes children to be born with poor bone growth, due to a defective allele of the FGFR3. For these persons, the risk of dwarfism is extremely high.

How is Dwarfism Treated?

There is no cure for dwarfism, and neither do any treatments exist specifically for the condition itself.

Rather, therapies are focused on reducing any complications that may develop. Hormone therapy can occasionally increase a patient’s final adult height, while various surgeries can correct some of the orthopedic and medical complications. Physical therapy helps improve muscle strength, while a back brace can correct spinal curvature. Hearing loss can be prevented by inserting a draining tube into the middle ear, thereby staving off frequent ear infections. It is also important to exercise regularly and follow nutritional guidelines to avoid obesity, as it can worsen existing skeletal issues.

Dwarfism Prevention

Preventing dwarfism is relatively easy in cases related to growth hormone deficiency. Simply making sure that the patient has enough nutrition and receives somatropin, the name of human growth hormone, in adequate amounts will generally prevent dwarfism. It may also be important to examine the medical history of the family of the patient to check for any potential incidences.

Unfortunately, dwarfism often has a genetic component. This is why genetic screening is absolutely important when dealing with dwarfism. Many people with the wrong allele can prevent their children from receiving it by examining fetuses and embryos before they reach an advanced stage. At this point, a woman can decide whether or not she wants to terminate her pregnancy. In some countries, steps are taken to ensure that individuals with a high risk of passing dwarfism on to their children do not breed together. Iceland, in particular, has had great success with this prevention policy.

Resources
Last Reviewed:
September 20, 2016
Last Updated:
December 15, 2017