Dwarfism – Types, Causes and Complications

Medicine estimates that between 15,000 and 26,000 children born alive, one has dwarfism. If we estimate that one in 20 thousand babies has the disease in Brazil, there would be about 9,500 dwarfs in the country, with the northeast where most of them are concentrated.

What is Dwarfism?

Dwarfism is a medical or genetic condition that causes an individual to be up to 20% less than the average of the same individuals of his species, at the same age.

Types of Nanism?

Although there are many different causes of dwarfism, there are two main types of the condition: pituitary dwarfism and achondroplasia .

Pituitary Dwarfism

True dwarfism is not considered because its causes are not genetic . It is characterized when the head, the trunk and the limbs are all proportional to the body, but much smaller than those of a medium-sized person.

This type of dwarfism is often the result of a hormonal deficiency and can usually be treated with hormonal injections while the child is still growing. As a result, someone born with pituitary dwarfism may reach an average height or approach it.

Acondroplasia

This is the most common type of dwarfism. It is genetic and is characterized by parts of the body that are disproportionate to each other. For example, arms and legs are significantly smaller than those of a medium-sized person, but the torso is the same size as someone unaffected 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:

Acondroplasia

Despite being genetic, some people can undergo spontaneous mutations in their genes that will make it possible for individuals of normal height, even without ascending dwarfs with this syndrome, to generate children with dwarfism.

Turner syndrome

This condition affects only women . Instead of inheriting two fully functional X chromosomes from their parents, an X chromosome is inherited and a second, or at least part of a second X chromosome is missing. Men, in comparison, own an X chromosome and a 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 growth hormone deficiency are never diagnosed.

Hypothyroidism

A thyroid problem, especially if it develops as a child , can lead to many health problems, including limited growth. Other complications include low energy, cognitive problems and swollen facial features.

Intrauterine growth delay

This condition develops while the baby is still in the mother’s womb. The pregnancy may end, but the baby is usually much smaller than the average. The result is typically pituitary dwarfism.

Risk Factors of 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 genes are inherited from one or both parents. Or else, the gene mutation can happen on its own, usually without a cause that doctors can discover.

Other risk factors for dwarfism include hormonal deficiency or malnutrition . There are generally no risk factors for a hormonal deficiency, but they can often be successfully treated.

Severe malnutrition, which leads to weak bones and muscles, can also be overcome in many cases with a healthy, nutrient-rich diet.

Sinais de Nanismo

The signs of dwarfism are very characteristic and include:

  • Prominent forehead;
  • Region between the eyes slightly flattened;
  • Jaw protruding;
  • Small dental arch;
  • Misalignment and overlap of teeth;
  • Sharp curve in the thinnest part of the spine;
  • Small arms and legs when compared to the rest of the body;
  • Small hands;
  • Legs are almost always curved;
  • Short.

Diagnosis of Dwarfism

  • At birth, the appearance of the newborn can sometimes be sufficient to make a diagnosis of dwarfism.
  • At follow-up visits, the baby is measured and weighed to see how it is developing. With these data it is possible to compare the average for a child your age. Being below the standard growth curve is another sign that the pediatrician can use to diagnose dwarfism.
  • Genetic testing can be useful in some cases. They are very important to distinguish one potential cause of dwarfism from another.
  • A blood test to check growth hormone levels can also help confirm the diagnosis of dwarfism caused by hormone deficiency.
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Possible Complications of Dwarfism

Stunting is often accompanied by health complications. These range from problems with the legs and back to problems with brain and lung function.

The most common complications associated with dwarfism (achondroplasia) are:

  • Arthritis
  • Narrow channel in the lower spine, resulting in pressure on the spinal cord (spinal stenosis)
  • Spinal pressure at the base of the skull
  • Excessive cerebral fluid (hydrocephalus)
  • Sleep apnea
  • Delays in the development of motor skills as a baby
  • Weight gain that can put more pressure on the spine and joints

Pregnancy in women with dwarfism can present its own set of possible complications, including breathing problems. A cesarean section is usually necessary, because the size of the pelvic area does not allow vaginal delivery.

For some people with pituitary dwarfism, poor organ development can lead to significant health problems.

Are there treatments for Nanism?

Stunting, regardless of the cause, cannot be cured or “corrected”. However, there are certain therapies that can help to 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 an average height, but they can get close.

Treatment includes daily injections that start in pre-adolescence, and can continue until the age of 20.

Girls with Turner syndrome need therapy with estrogen and other hormones to help trigger puberty and appropriate female development. Estrogen therapy may be necessary until it reaches the age of menopause.

Surgical options – For others with dwarfism, surgical treatments may be necessary and useful to live a longer and healthier life.

Surgical treatments include those that can help:

  • Correcting the direction of bone growth
  • Stabilizing the spine
  • Increase the canal in the vertebrae surrounding the spinal cord to relieve pressure on the spinal cord

Another surgical procedure for people with excess fluid around the brain is to place a drain valve. This can relieve some of that fluid and reduce the pressure on the brain.

Physiotherapy and orthopedics – These are non-invasive solutions for some complications of dwarfism. Physiotherapy is often prescribed after surgery on a limb to help you regain or improve your range of motion and strength. It can also be indicated if dwarfism is affecting the way you walk 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 some important considerations. When both parents have dwarfism, the chances of a child being born with dwarfism are greater than in the general population.

In the case of achondroplasia, for example, a person has a dwarf gene and an 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 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 two dwarf genes. Babies who are born with what is called homozygosis often die at birth or shortly thereafter.

Living With Dwarfism

People with dwarfism often have long and satisfying lives . The condition does not affect the ability to go to school or work, have a family or enjoy anything else that life can offer.

However, dwarfism can lead to potentially serious medical complications. It is important to have an annual checkup and visits to specialists, as needed. Be proactive and observe changes in health, seeking medical help as soon as possible.

See also: Child Malnutrition – Causes, Symptoms and Treatment

Dr. Alexis Hart
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My name is Dr. Alexis Hart I am 38 years old, I am the mother of 3 beautiful children! Different ages, different phases 16 years, 12 years and 7 years. In love with motherhood since always, I found it difficult to make my dreams come true, and also some more after I was already a mother.

Since I imagined myself as a mother, in my thoughts everything seemed to be much easier and simpler than it really was, I expected to get pregnant as soon as I wished, but it wasn’t that simple. The first pregnancy was smooth, but my daughter’s birth was very troubled. Joana was born in 2002 with a weight of 2930kg and 45cm, from a very peaceful cesarean delivery but she had already been born with congenital pneumonia due to a broken bag not treated with antibiotics even before delivery.

Dr. Alexis Hart

My name is Dr. Alexis Hart I am 38 years old, I am the mother of 3 beautiful children! Different ages, different phases 16 years, 12 years and 7 years. In love with motherhood since always, I found it difficult to make my dreams come true, and also some more after I was already a mother.Since I imagined myself as a mother, in my thoughts everything seemed to be much easier and simpler than it really was, I expected to get pregnant as soon as I wished, but it wasn’t that simple. The first pregnancy was smooth, but my daughter’s birth was very troubled. Joana was born in 2002 with a weight of 2930kg and 45cm, from a very peaceful cesarean delivery but she had already been born with congenital pneumonia due to a broken bag not treated with antibiotics even before delivery.

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