Rare Diseases 2022

Dwarfism: what é and main symptoms and causes

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Dwarfism: what é and main symptoms and causes
Dwarfism: what é and main symptoms and causes

Dwarfism is a consequence of genetic, hormonal, nutritional and environmental changes that make the body not grow and develop as it should, causing the person to have a maximum height below the average of the population of the same age and sex, which can vary between 1.40 and 1.45 m.

Dwarfism can be characterized by short stature, curvy limbs and fingers, long, narrow torso, bowed legs, relatively large head, prominent forehead, and accentuated kyphosis and lordosis.

There are two main types of dwarfism, which include:

  • Proportional or pituitary dwarfism: all body parts are smaller than normal and appear proportionate for height;
  • Disproportionate or achondroplastic dwarfism: some parts of the body are equal to or larger than expected, creating a sense of disproportionate height.

Dwarfism is usually not curable, but treatment can alleviate some of the complications or correct deformities that may arise as a child develops.

Main symptoms and causes

In addition to decreasing body height, different types of dwarfism can cause other symptoms such as:

1. Proportional dwarfism

Normally symptoms of this type appear in the first years of life, since its main cause is a change in the production of growth hormone, which is present from birth. Symptoms include:

  • Growth less than the pediatric third percentile curve;
  • General development of the child below normal;
  • Delay in sexual development during adolescence.

In most cases, the diagnosis is made by the pediatrician shortly after birth or during childhood consultations.

2. Disproportionate dwarfism

Most cases of this type of dwarfism are caused by an alteration in the formation of cartilage, called achondroplasia. In these cases, the main symptoms and signs are:

  • Full-sized trunk;
  • Short legs and arms, especially around the forearm and thighs;
  • Small fingers with more space between middle and ring finger;
  • Difficulty bending the elbow;
  • Head too big for the rest of the body.

In addition, when caused by other changes, such as chromosomal mutations or malnutrition, disproportionate dwarfism can also cause a short neck, rounded chest, lip deformities, vision problems, or foot deformities.

What is primordial dwarfism

Primordial dwarfism is an extremely rare type of dwarfism, which can often be identified before birth, since fetal growth is very slow, being less than expected for the gestational age.

Normally, the child is born with very low weight and continues to grow very slowly, although their development is normal and, therefore, the diagnosis is usually made in the first months of life.

How the diagnosis is made

The diagnosis of dwarfism is clinical, and the radiological examination is usually sufficient for its confirmation. Due to the bone constitution, some clinical complications are more frequent, and follow-up by a multidisciplinary team is recommended, with special attention to neurological complications, bone deformities and recurrent infections in the ears.

Treatment options

All cases must be evaluated by the doctor, in order to identify possible complications or deformities that need to be corrected. However, some of the most commonly used treatments include:

  • Surgery: must be performed by an orthopedist and helps correct changes in the growth direction of some bones and promote bone elongation;
  • Hormone therapy: is used in cases of dwarfism due to growth hormone deficiency and is done with daily injections of the hormone, which can help reduce the height difference;
  • Augmentation of the arms or legs: This is an infrequently used treatment in which the doctor performs surgery to try to stretch the limbs if they are disproportionate to the rest of the body.

In addition, those who suffer from dwarfism should have regular consultations, especially during childhood, to assess the emergence of complications that can be treated, in order to maintain a good quality of life.

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