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Dwarfism: Causes, Diagnosis and Treatment

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Dwarfism is observed when an individual is unusually short. It should not be considered as a disease. Most people being dwarf can perform everything just like average height people could.

In this article:

What is Dwarfism?
Causes of Dwarfism
Diagnosis of Dwarfism
Treatment for Dwarfism

All You Need to Know about Dwarfism

What is Dwarfism?

Dwarfism can be determined as a medical or genetic condition causing short stature in an individual when compared to an average-sized individual. The average height considered for dwarfism is about 4 feet but dwarfism can be applied to a grown-up who is 4’10” or shorter. The term ‘dwarf’ is now preferably replaced by ‘short stature’. Terms such as ‘little person’ or ‘little people’ are also used. But a term like ‘Midget’ is no more acceptable.

Dwarfism can be categorized as :

  • Disproportionate dwarfism: an average-sized man with a shorter pair of arms and legs or shortened trunk with longer limbs.
  • Proportionate dwarfism: the body parts are in proportion but shortened.

Causes of Dwarfism

The most common cause of dwarfism is genetic and it includes :

Achondroplasia

It is a very common genetic condition and is found in an individual who has both parents averaged sized. In achondroplasia, the person has a single mutated gene, and also an unaffected version of that gene is present. Most often dwarfism is caused by achondroplasia.

Turner Syndrome

Only females are affected by this condition. Here, the affected female do not inherit two fully functioning X chromosome from her both parents instead she lacks one of the X chromosomes.

Growth Hormone Deficiency

The deficiency of growth hormones can be considered an important cause of dwarfism. It can be due to genetic mutation.

Hypothyroidism

An underactive thyroid at a very young age can also lead to many health problems, including limited growth. Other manifestations such as low energy, puffy face, and cognitive problems. In a newborn, routine screening is necessary to keep a check on the thyroid.

Intrauterine Growth Retardation

In this condition, during pregnancy, the baby develops the defect. The pregnancy may go normal, but when the baby is born he is much smaller than average. Such a defect often results in typical proportionate dwarfism.

Genetics and Other Risk Factors

The genetic defect can occur spontaneously. Inherited genetic disorders can be of two forms recessive or dominant. In recessive form, the person has inherited both the mutated gene while in dominant form, only one mutated gene is inherited and is enough to cause a defect.

Other risk factors for dwarfism are hormone deficiency or malnutrition. A severe form of malnutrition can weaken the muscles as well as bones and if given proper nutrient diet, they can recover easily.

Diagnosis of Dwarfism

At the time of birth, the affected newborn appears abnormal and thus it is easy to make out. Measuring the weight and height of newborns and compare it to other kids of the same age group. The pediatrician growth chart can help assess the growth of the baby. Tentative prenatal diagnosis can be made while the baby is still inside the mother’s womb through ultrasound. If the baby appears dwarf then the doctor may recommend amniocentesis, a lab test of amniotic fluid from the womb.

Genetic testing is also helpful in many cases, specifically in distinguishing one type of dwarfism from another. A simple blood test can detect the growth hormone levels and help in diagnosing dwarfism caused due to hormone deficiency.

Treatment for Dwarfism

Dwarfism cannot be corrected, but certain therapies can be used to reduce the risk of complications.

Hormonal Therapy

In people suffering from the growth hormone deficiency, injections of synthetic human growth hormone can be helpful. Children who take treatment at an early age may not achieve the average height but can get close to it.

Treatment includes routine injections when the child was young and may continue this injection until his mid-20s. Girls with Turner’s syndrome require estrogen therapy and other hormones to trigger her puberty and proper female organ development.

Surgical Options

In other dwarfism cases, surgical treatment is required which helps affected individuals to live a longer and healthier life.

Surgical treatments can :

  • Correct the bone growth direction.
  • Stabilize the spine.
  • Increase the channel in the vertebrae while reducing the pressure on the spinal cord
  • Physical Therapy and OrthoticsThese are non- invasive solution to many complications of dwarfism. Physical therapy is often used in individuals who have had back surgery to regain strength for motion. While orthotics are custom- made devices that fit in the shoes to improve the foot functioning.

Conclusion

Dealing with such conditions is difficult for an individual due to ignorance made by society. Their day-to-day life may be full of such challenges to deal with this dwarfism. But this condition causes no harm to their intelligence, and thus they can also lead a perfectly normal life. The only thing important is the prevention of the development of complications. Being proactive about health and responding quickly to the changes in the body is crucial. Thus, an annual checkup is necessary for such individuals.

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