Achondroplasia

2024 Author: Rachel Wainwright | [email protected]. Last modified: 2023-12-15 07:39

Pregnancy is a complex and lengthy process that does not always end with the birth of an absolutely healthy baby. The birth of a child with any developmental pathology can be due to a variety of reasons. In this case, anomalies can occur both during the entire pregnancy and immediately at the moment of conception, which is associated with the inferiority of the parental genetic material. One of these pathologies is achondroplasia, or dwarf growth caused by congenital deformation of the skeleton.

Achondroplasia: genetics

The intrauterine development of the child occurs according to the genetic program laid down directly during his conception. In this case, the congenital nature of such a pathology as achondroplasia may be associated with two factors. The first is the transfer of an abnormal gene to the child from the parents, if one of them or both of them suffer from this disease. This indicates that with achondroplasia, genetics confirms the likelihood of a hereditary type of pathology that has appeared in a baby.

The second and most common factor in the formation of a birth defect is considered to be random mutations in the germ cells of one of the parents. As a result, the child gets a “wrong” gene, which leads to the development of achondroplasia. Thus, a baby with a similar pathology can be born to completely healthy people. The likelihood of the birth of a sick child increases significantly if the age of his father is more than 40 years.

For the early, even before childbirth, detection of achondroplasia in an infant, geneticists at the end of the last century developed special tests. However, their use is provided only if both parents of a bearing child have a similar anomaly at once.

Achondroplasia: causes and symptoms

Congenital skeletal pathology can be either hereditary in nature or appear due to random gene mutations in parental cells. There are many reasons for such changes in genes that cause achondroplasia in a child. Each of the future parents is capable of transmitting defective chromosomes to a child.

Most often, mutations in the body are associated with an unfavorable environmental situation and harmful factors at work. Also, changes in the germ cells can occur during the natural aging of a person. That is why there is a high risk of having a child with achondroplasia in parents of a fairly mature age, especially often in such a situation, the mutated gene gets to the baby from the father.

Clinical manifestations of the disease can be observed immediately after the birth of the child. A newborn with achondroplasia has shorter-than-normal upper and lower limbs and a disproportionately large head. The physical development of such a baby from an early age also differs from the norm, and lies in the fact that the growth of the child's skeleton is uneven. The torso and head grow with age. The limbs grow in length only mainly at the expense of the distal sections, while the growth of the femurs and humerus is significantly slowed down.

Achondroplasia is not only a cosmetic defect. As a result of the disproportionate growth of the body, the load on the spine and lower extremities increases, which leads to secondary deformation of the skeleton. In addition, since the intellect is practically not affected in achondroplasia, the disease contributes to the emergence of various psychological problems. Of course, gene disorders cannot be corrected, however, there are treatments that can increase growth through surgery and hormone therapy.

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The information is generalized and provided for informational purposes only. At the first sign of illness, see your doctor. Self-medication is hazardous to health!