Dwarfism
Dwarfism is a genetic medical condition that causes a person to be much shorter than the average-sized man or woman. The average height of an adult with dwarfism is four feet or about 1.2 meters. But dwarfism can also apply to adults who are 147.32 centimeters tall or shorter. While there are many different causes of dwarfism, there are two main types of the condition, proportional and disproportionate. Here’s an explanation:
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Proportional dwarfism
This type of dwarfism is characterized by the head, torso, and limbs all being in proportion to each other. But much smaller than the average person’s size, this condition is known as proportional dwarfism. This type of dwarfism is often the result of a hormone deficiency. It can often be treated with hormone injections while the child is still growing.
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Disproportionate dwarfism
This is the most common type of dwarfism. As the name suggests, it is characterized by having body parts that are disproportionate to each other. For example, a genetic condition called achondroplasia results in arms and legs that are much shorter than those of an average-sized person. But the trunk of the legs or hands looks like someone who is not affected by dwarfism.
Symptoms of Dwarfism
In addition to short stature, dwarfism symptoms will vary depending on the type experienced by the sufferer. Here is the explanation:
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Disproportionate Dwarfism
Most people with dwarfism have a disorder that causes disproportionate short stature. Almost all people with disproportionate dwarfism have normal intellectual abilities. Rare exceptions are usually the result of secondary factors, such as excess fluid around the brain (hydrocephalus). This disorder usually results in the following:
- The arms and legs are short, with short upper arms and upper legs.
- Short fingers, often with a wide gap between the middle and ring fingers.
- Limited mobility at the elbow.
- Disproportionately large head, with a prominent forehead and flat bridge of the nose.
- Progressive development of bowed legs.
- Progressive development of the swaying lower back.
- Adult height is about 4 feet (122 cm).
Another cause of disproportionate dwarfism is a rare disorder called spondyloepiphyseal dysplasia congenita (SEDC). Signs may include:
- Very short body.
- Short neck.
- The arms and legs are shortened.
- Average hand and foot size.
- The chest is wide and round.
- The cheekbones are quite flat.
- Opening in the roof of the mouth (cleft palate).
- Pelvic deformity that causes the femur to rotate inward.
- Crooked or misshapen legs.
- Cervical instability.
- Progressive curvature of the upper spine.
- Progressive development of the swaying lower back.
- Vision and hearing problems.
- Arthritis and problems with joint movement.
- Adult height ranges from 3 feet (91 cm) to over 4 feet (122 cm).
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Proportional dwarfism
Proportional dwarfism results from a medical condition that is present at birth or appears in childhood. It usually limits overall growth and development. So the head, trunk, and limbs are all small, but in proportion to each other. Because the disorder affects overall growth, many people with it have poor development in one or more body systems. Signs include:
- Height below the average standard child growth chart.
- Growth rate is slower than expected for age.
- Sexual development during adolescence is delayed or absent altogether.
Causes of Dwarfism
Experts believe that there are more than 300 conditions that cause dwarfism. Most of the causes are genetic. The most common causes include:
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Achondroplasia
Although achondroplasia is a genetic condition, four out of five people who have it also have two average-sized parents. If you have achondroplasia, you have one mutated gene associated with the condition and one unaffected version of the gene. This condition is the most common cause of dwarfism.
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Turner syndrome
This condition occurs when a woman does not inherit two fully functioning X chromosomes from her parents. Instead, she inherits one X chromosome and is missing the second X chromosome, or at least part of both. Men, by comparison, have an X chromosome and a Y chromosome.
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Growth hormone deficiency
The reason for growth hormone deficiency is not always clear. However, sometimes the condition is related to a genetic mutation. In many cases, the reason for growth hormone deficiency is never diagnosed.
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Hypothyroidism
An underactive thyroid, especially if it develops at a young age, can cause many health problems. Including restricted growth. Other complications include low energy, cognitive problems, and puffy facial features.
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Intrauterine growth retardation
This condition develops while the baby is still in the mother’s womb. The pregnancy may last quite a long time, but the baby is usually much smaller than average. The result is usually proportional dwarfism.
Risk Factor Dwarfism
Dwarfism is usually the result of a genetic mutation. But having the gene responsible for dwarfism can occur in several ways.
In some cases, a person may not be born with a mutated gene inherited from a parent. However, the gene mutation in the body occurs on its own, usually without a definite cause.
Inherited genetic disorders can occur in two forms. One is recessive, which means a person inherits two mutated genes (one from each parent) to have the condition. The next form of genetic disorder is dominant. This disorder occurs when a person has one mutated gene from one parent.
Other risk factors for dwarfism include hormone deficiencies or malnutrition. There are usually no risk factors for hormone deficiencies, but they can often be treated successfully. Serious malnutrition, which causes weak bones and muscles, can also be treated in many cases with a healthy, nutrient-rich diet.
Diagnosis Dwarfisme
At birth, sometimes a newborn’s appearance may be enough to make a diagnosis of dwarfism. As part of a well-baby checkup, a child should be measured and weighed to see how they compare to the population average for children their age. Consistently measuring in the lowest quartile on a standard growth chart is another sign a pediatrician can use to diagnose dwarfism.
Making a tentative prenatal diagnosis while the baby is still in the womb can be done with an ultrasound. If the baby’s appearance suggests dwarfism, or if the parents know they carry the dwarfism gene, the doctor may recommend amniocentesis. This is a laboratory test of amniotic fluid from the uterus.
Genetic testing can be helpful in some cases. This is especially true when distinguishing one potential cause of dwarfism from another. Blood tests to check growth hormone levels can also help confirm a diagnosis of dwarfism caused by a hormone deficiency.
Dwarfism Treatment
The goal of treatment is to maximize function and independence for the person with dwarfism. However, it is important to note that most dwarfism treatments do not improve stature. However, treatment can improve or alleviate problems potentially caused by complications.
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Surgical treatment
Surgical procedures that can correct problems in people with disproportionate dwarfism include:
- Correcting the direction of bone growth.
- Stabilizes and corrects the shape of the spine.
- Increases the size of the openings in the spine (vertebrae) to reduce pressure on the spinal cord.
- Placing a shunt device to drain excess fluid around the brain if hydrocephalus occurs.
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Hormone Therapy
For individuals with dwarfism due to growth hormone deficiency, treatment with injections of a synthetic version of the hormone can increase final height. In most cases, children receive daily injections for several years until they reach their full adult height. Typically, these injections are given until the child is the average adult height for their family.
Complications of Dwarfism
Dwarfism is often accompanied by health complications. The complications that occur range from leg and back problems to brain and lung function problems. The following are the most common complications associated with disproportionate dwarfism:
- Bent legs.
- Arthritis.
- Progressive back hunchback.
- Narrowed canal in the lower spine, causing pressure on the spinal cord (spinal stenosis).
- Spinal pressure at the base of the skull.
- Excess brain fluid (hydrocephalus).
- Sleep apnea.
- Delayed development of motor skills as an infant.
- Weight gain can put more pressure on the spine and joints.
Pregnancy in those with dwarfism can present its own potential complications, including respiratory problems. Cesarean delivery is usually necessary, as the size of the pelvic area does not allow for vaginal delivery.
Meanwhile, for some people with proportional dwarfism, poor organ development can cause significant health problems.
Prevention of Dwarfism
Genetic changes or mutations in each individual can occur randomly. This means that there is nothing that parents can do before or during pregnancy to prevent these genetic changes from occurring. However, a genetic counselor can help determine the likelihood of having a child with dwarfism.
Depending on the type of dwarfism, two parents of average height can have a child of short stature. However, it is also possible for two parents with dwarfism to have a child of average height.
When to See a Doctor?
Dwarfism is usually detected early when the sufferer is still a baby or in the womb. However, when the child has grown up, it is important for parents who have children with this condition to always check their child’s condition to the doctor. The goal is to monitor the symptoms and possible risks of complications that may occur.
