Dwarfism - Health Center


By Refadoc, Posted on : Tuesday, 15 September 2015 - 10:46 am IST

Dwarfism - Overview

Dwarfism is often scorned upon by people. Most of the conditions related to dwarfism are the ones which are caused due to the genetic disorders found in the human genes. All around the world, some of the major occurrence of dwarfism is the result of the genetic mutation which is either found in the sperm of the father or the egg of the mother. This is found in one of the parent’s genetic makeup.

Achondroplasia is the condition which affects around 80% of people who are thought to be dwarfs. People suffering from this condition are born to parents with a normal height. However, a person suffering from Achondroplasia is the one which has received one of the mutated genes from either one of his parents. This gene is associated with dwarfism and combines with the normal copy of the gene. A person suffering from this disorder may pass along the gene to their future children or may not do that too.

Turner Syndrome is the one which is caused due to the deletion of the altered X chromosome from either the sperm or the egg. This X chromosome is the one of the two chromosomes and is needed towards the determination of the sex of the child. Since the female is the one who inherits the X chromosome from each of the parents and the male are the ones which inherit the Y chromosome from the father and the X chromosome from the mother. A child who is suffering from Turner’s syndrome is the one who has only one of the fully functioning copies of the Female Sex chromosome instead of having two like the other children.

Growth Hormone deficiency is another one of the reasons for the occurrence of dwarfism. This hormone can be related back to the genetic mutation or the injury; however no real reason is determined for the same. Due to the poor nutrition too, people can become prey of dwarfism.

Signs and Symptoms of Dwarfism:

There are known more than 200 different reasons for the occurrence of dwarfism. The symptoms of dwarfism vary from one person to the other.

In general, there are two different types of Dwarfism:

a) Disproportionate Dwarfism: In this the body size of the person is in a disproportion; while some of the body parts are small, other are of an average size. This disorder causes the people to inhibit the development of their bones.

b) Proportionate Dwarfism: In this, the body of the person is small, and all parts of his body are found in the same degree. This looks like the body of an average small person.

The symptoms of both are as follows:

1. Disproportionate Dwarfism:

  • Average size of the trunk
  • shortness of the arms and the legs
  • Short upper arms and legs
  • short fingers and a wide separation between the middle and the ring fingers
  • limited movement of the elbows
  • a very large head
  • A prominent forehead with flattened bridge if the nose
  • progressive development of legs
  • an adult height of 4 feet

The symptoms of another rare kind of Dwarfism by the name of Spondyloepiphyseal Dysplasia congenital are as follows:

  • Short trunk, not apparent at infancy
  • Short neck
  • Short arms and legs
  • Average sized hands and feet
  • Flattened cheekbones
  • Hip deformities
  • Twisted, out of shape feet
  • Development of lordosis
  • Vision and hearing problems
  • Adult height of 3 feet to 4 feet

 2. Proportionate Dwarfism:

The symptoms of proportionate dwarfism are as follows:

  • Height below the third percentile on the standard growth chart
  • A lower growth rate as compared to other counterparts
  • Delayed or no sexual development of the person

Tests and Diagnosis of Dwarfism:

1. Measurement: A regular part of the medical examination is the measurement of the height of the child. This chart is meant to make sure that expected growth of the child can be measured from time to time. However if the measurement chart shows a delay in the growth of the height of the chart, dwarfism can be diagnosed.

2. Appearance: many of the major distinct facial as well as skeletal features are associated with dwarfism. The appearance of the child can give out that the person is suffering from dwarfism.

3. Genetic Tests: They are available to test the person with the genes for dwarfism. The blood of the person can be checked for the X chromosome which is associated with Turner’s syndrome.

4. Family History: The doctor needs to access the family history of the person who is suffering from the disease in order to check the average height of the family members and therefore check if dwarfism runs in the family.

5. Hormone Tests: These are the ones that can be conducted by the doctors to access the level of the growth hormones in the body. These hormones are very critical to the development and growth of a person.

Treatment of Dwarfism:

Treatments are in place for reducing the complications that arise from Dwarfism. Some of these are:

1. Surgical Procedures:

They correct the bones of the people who are suffering from disproportionate dwarfism. Some of the measures are:

- Insertion of the metal staples in the end of the long bones at the side of the growth, this corrects the direction for the growth of bones.
- Division of the bone limb and it’s straightening by metal plates
- Insertion of rods and staples to correct the shape of the spine
- Increasing the size of the opening of the bones to increase the pressure it has on the spinal cord.

2. Limb strengthening:

In this procedure the doctor goes out to divide the long bone into two or more sections and then separate them with the help of the braces. Pins and screws are used to make sure that the frame is in place and therefore, there is a tension between the sections which allows the bone to grow back into a long complete bone.

3. Hormone Therapy:

This makes use of the synthetic hormones to induce the growth of the bones. Treatment by the same can go on to continue throughout the teenage of the children and therefore can make sure that the patients are able to gain the muscle and fat as well. Girls who suffer from Turner’s syndrome are the ones that need estrogens in order to achieve the adult sexual development.

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