Pregnancy - a long and complicated process that does not always ends with the birth of a healthy baby absolutely. The birth of a child with a pathology of the development may be due to a variety of reasons. This anomaly may occur both during the pregnancy and at the moment of conception, due to disability of the parent genetic material. One of these pathologies is achondroplasia, or dwarfism caused by a congenital deformity of the skeleton.
Prenatal development of the baby occurs planted directly by his conception of the genetic program. Thus the innate nature of this pathology as achondroplasia, may be linked to two factors. The first - child transmission of the abnormal gene from their parents, if one or both are suffering from this disease. This suggests that the genetics of achondroplasia confirmed the likelihood of hereditary type of pathology that appears at the kid.
The second, and most common factor in the formation of a birth defect, considered random mutations in the germ cells of a parent. As a result, the child goes "wrong" gene, which leads to the development of achondroplasia. Thus, in otherwise healthy people can be born kid with a similar pathology. The probability of the birth of a sick child is greatly increased if the age of his father more than 40 years.
For early, even before birth, a baby's identify achondroplasia geneticists at the end of the last century have developed special tests. However, their use is provided only in the case where the right to bear a child, both parents have a similar anomaly.
Achondroplasia: Causes and Symptoms
Congenital skeleton may have both hereditary and occur due to random genetic mutations in the parental cells. For such changes to the genes that cause the child achondroplasia, the reasons are many. Send your child is capable of defective chromosomes, each of the prospective parents.
The most common mutation in the body are associated with adverse environmental conditions and harmful factors in the workplace. Also, changes in the germ cells can occur during natural human aging. That is why a high risk of having a child with achondroplasia have parents rather mature age, very often in a situation like the mutated gene from the father goes to the baby.
Clinical manifestations of the disease can be observed immediately after the child's birth. A newborn with achondroplasia has a shorter than normal, upper and lower extremities, as well as a disproportionately large head. Physical development of the baby from an early age is also different from the norm, and is that the growth of the child's skeleton is uneven. The body and head are increased according to age. Certainly grow in length only mainly due to distal parts, while growth hip and shoulder bones slows significantly.
Achondroplasia is not only a cosmetic defect. As a result, the disproportionate growth of the body increases the load on the spine and lower limbs, resulting in a secondary deformation skeleton. In addition, since the intelligence in achondroplasia almost does not suffer the disease contributes to a variety of psychological problems. Of course, disturbances in the genes can not be corrected, however, there are treatments that increase the growth by surgery, and hormone therapy.