Medicine estimates that between 15,000 and 26,000 live-born children, one has dwarfism. If we estimate that one in 20,000 babies has the condition in Brazil, there would be about 9,500 individuals with dwarfism in the country, with most of them concentrated in the northeast region.
What is Dwarfism?
Dwarfism is a medical or genetic condition that causes an individual to have a height up to 20% shorter than the average of others of the same species at the same age1.
Types of Dwarfism?
Although there are many different causes of dwarfism, there are two main types of the condition: pituitary dwarfism and achondroplasia.
Pituitary Dwarfism
It is not considered true dwarfism because its causes are not genetic. It is characterized by the head, trunk, and limbs all being proportional to the body, but much smaller than those of an average-sized person2. This type of dwarfism is often a result of a hormonal deficiency and in general can be treated with hormone injections while the child is still growing. As a result, someone born with pituitary dwarfism can reach an average height or come close to it.
Achondroplasia
This is the most common type of dwarfism3. It is genetic and is characterized by body parts that are disproportionate to one another. For example, arms and legs are significantly shorter than those of an average-sized person, but the trunk is the same size as someone not affected by dwarfism.
Causes of Dwarfism
It is believed that there are more than 300 conditions that cause dwarfism. Most of these causes are genetic, and the most common are:
Achondroplasia
Although it is genetic, some people may experience spontaneous mutations in their genes, which means individuals of average height, even without a family history of the syndrome, can have children with dwarfism.
Turner Syndrome
This condition affects only women. Instead of inheriting two fully functional X chromosomes from their parents, one X chromosome is inherited, and a second is missing or at least part of it. Men, in comparison, have one X chromosome and one Y chromosome.
Growth Hormone Deficiency
The causes of growth hormone deficiency are not always clear. Sometimes it is linked to a spontaneous mutation. In many cases, the reasons for the deficiency are never diagnosed.
Hypothyroidism
A thyroid problem, especially if it develops during childhood, can lead to many health problems, including limited growth. Other complications include low energy, cognitive problems, and puffy facial features.
Intrauterine Growth Retardation
This condition develops while the baby is still in the mother’s womb. The pregnancy may reach full term, but the baby is usually much smaller than average. The result is typically pituitary dwarfism.
Risk Factors for Dwarfism
Dwarfism is usually the result of a genetic mutation. But having a gene or genes responsible for dwarfism can occur in several ways. In some cases, it can happen spontaneously, where the genes are inherited from one or both parents. Or, the gene mutation can happen on its own, usually with no cause that doctors can identify. Other risk factors for dwarfism include hormonal deficiency or malnutrition. Generally, there are no risk factors for a hormonal deficiency, but these can often be treated successfully. Severe malnutrition, which leads to weak bones and muscles, can also be overcome in many cases with a healthy, nutrient-rich diet.
Signs of Dwarfism
The signs of dwarfism are quite characteristic and include:
- Prominent forehead;
- Slightly flattened area between the eyes;
- Jutting jaw;
- Small dental arch;
- Misalignment and overlapping of teeth;
- Pronounced curve in the narrowest part of the spine;
- Short arms and legs compared to the rest of the body;
- Small hands;
- Legs that are almost always bowed;
- Short stature.
Diagnosis of Dwarfism
- At birth, sometimes the appearance of the newborn is enough to make a diagnosis of dwarfism.
- At follow-up appointments, the baby is measured and weighed to check their development. With this data, it is possible to compare it to the average for a child of the same age. Being below the standard growth curve is another sign that the pediatrician can use to diagnose dwarfism.
- Genetic testing can be helpful in some cases. These are quite important to distinguish a possible cause of dwarfism from another.
- A blood test to check growth hormone levels can also help confirm a diagnosis of hormonally caused dwarfism.
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Possible Complications of Dwarfism
Dwarfism is often accompanied by health complications. These range from problems in the legs and back to issues with brain and lung function. The most common complications associated with dwarfism (achondroplasia) are:
- Arthritis
- Narrowing of the lower spinal canal, resulting in pressure on the spinal cord (spinal stenosis)
- Spinal pressure at the base of the skull
- Excess cerebrospinal fluid (hydrocephalus)
- Sleep apnea
- Delays in developing motor skills as a baby
- Weight gain, which can put extra pressure on the spine and joints
Pregnancy in women with dwarfism can present its own set of possible complications, including breathing problems. Cesarean section is usually necessary because the size of the pelvic area does not allow for vaginal delivery. For some people with pituitary dwarfism, poor organ development can lead to significant health problems.
Are There Treatments for Dwarfism?
Dwarfism, regardless of the cause, cannot be cured or “fixed.” However, there are certain therapies that can help reduce the risk of complications.Hormone Therapy – For people with growth hormone deficiency, synthetic growth hormone injections can be helpful. Children who receive this treatment do not always reach average height, but they can come close. Treatment includes daily injections that begin before adolescence and can continue up to age 20.Girls with Turner syndrome need estrogen and other hormone therapies to help trigger puberty and proper female development. Estrogen therapy may be necessary until she reaches menopause.Surgical Options – For others with dwarfism, surgical treatments may be needed and helpful for living a longer, healthier life.Surgical treatments include those that can help:
- Correct the direction of bone growth
- Stabilize the spine
- Enlarge the canal in the vertebrae surrounding the spinal cord to relieve pressure on the cord
Another surgical procedure for people with excess fluid around the brain is to place a shunt for drainage. This can relieve some of the fluid and reduce pressure on the brain.Physical Therapy and Orthopedics – These are non-invasive solutions for some complications of dwarfism. Physical therapy is often prescribed after limb surgery to help restore or improve range of motion and strength. It can also be indicated if dwarfism is affecting how a person walks or is causing pain that does not require surgery.
Can I Pass Dwarfism to My Children?
When it comes to having a family, there are a few important considerations. When both parents have dwarfism, the chances of a child being born with dwarfism are higher than in the general population.In the case of achondroplasia, for example, a person has one gene for dwarfism and one unaffected gene. This means that, when both parents have achondroplasia, there is a 25% chance that the child will inherit the unaffected gene and grow up normally.There is a 50% chance that the child will inherit one gene of each type, but a 25% chance that the baby will have both genes for dwarfism. Babies born with what is known as homozygosity often die at birth or shortly thereafter.
Living With Dwarfism
People with dwarfism often live long and fulfilling lives. The condition does not affect the ability to go to school or work, have a family, or enjoy anything else life has to offer.However, dwarfism can lead to potentially serious medical complications. It is important to have an annual checkup and see specialists as needed. Being proactive and watching for health changes, seeking medical help as soon as possible.See Also: Childhood Malnutrition – Causes, Symptoms, and Treatment Photos: Judgefloro
