Achondroplasia

As everyone knows, a person’s physical fitness and appearance are one of the main factors in his self-confidence, self-esteem, and, of course, success. And it would seem that all people have their own developmental and physiological characteristics, but achondropathic syndrome stands out in this series in that it is impossible not to pay attention to its owner. In simple words, achondropathy is very, very noticeable.

The incidence of achondroplasia ranges from 1 to 2 people per thousand newborns. Also, now there are timely screening methods that make it possible to identify a child with a 99% probability even before birth. However, the problem is that



What is achondroplasia?

**Achondroplasia** is considered a special anomaly in skeletal development. Congenital skeletal deformities occur when some of the cartilage cells begin to clump together and prevent developing bones from growing. When the embryo develops, the cartilage cells in the embryonic bone, during their development, can confuse other cells from the tissues and begin to develop around them. This body error is called chondrodysplasia. After this, bones grow from connective tissue elements rather than from developing cells. As a result, human bones become disproportionately short and weak.

Prevalence

The achondroplastic characteristic is one of the causes of heredity. At this time, genetic testing indicates the place of occurrence of the disease in question. Immediately after the presence of one sick child is detected, the parents are on the list of potential carriers. The likelihood that an infant will “inherit” achondroplasia is also about 9%. The disease is possible in both children and adults. This disease occurs much more often in boys than in girls. Most often it is recorded in newborns, less often in adolescents and even less often in elderly people. This is noticeable in everyone, but given the life expectancy, the disease can affect one type after another. An accurate diagnosis can be obtained after birth. Initially, the disease consists of the birth of a baby with insufficient length of the lower limbs. This may cause hypermobility of the joints as they may be weakened. If we consider serious forms, then patients have a small chest and skull, which during examination is revealed under the influence of x-rays. Patients are also characterized by a slower rate of growth of adult bones. The most severe types of disease lead