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Achondroplasia

Ахондроплазия - причины, лечение Pregnancy – difficult and long process which not always comes to an end with the birth of absolutely healthy kid. The birth of the child with any pathology of development can be caused by the most different reasons. At the same time anomalies can arise as during all pregnancy, and directly at the time of conception that is connected with inferiority of parent genetic material. One of such pathologies is the achondroplasia, or the dwarfish growth caused by inborn deformation of a skeleton.

Achondroplasia: genetics

Pre-natal development of the child happens according to the genetic program put directly at his conception. At the same time the inborn nature of such pathology as an achondroplasia, can be connected with two factors. The first – transfer to the child of an abnormal gene from parents if one of them or at once both have this disease. It demonstrates to what at an achondroplasia of the geneticist confirms probability of hereditary type of the pathology which developed at the kid.

The second, and most widespread factor of formation of inborn defect, chance mutations in sex cells of one of parents are considered. As a result the child gets a "wrong" gene which leads to development of an achondroplasia. Thus, at quite healthy people the kid with similar pathology can be born. The probability of birth of the sick child considerably increases if the age of his father is more than 40 years.

For early, even before childbirth, identifications at the baby of an achondroplasia by geneticists at the end of the last century were developed special tests. However their use is provided only in that case when at once both parents of the born child have similar anomaly.

Achondroplasia: reasons and symptoms

Inborn pathology of a skeleton can have as hereditary character, and to appear owing to accidental genovariations in parent cells. For similar changes of the genes causing in the child an achondroplasia, the reasons quite a lot. Each of future parents is capable to give to the child defective chromosomes.

Most often mutations in an organism are connected with an adverse ecological situation and harmful factors on production. Also changes in sex cells can arise in the course of natural aging of the person. For this reason the risk of the birth of the child with an achondroplasia at parents of rather mature age is high, especially often in a similar situation the baby gets the mutated gene from the father.

Ахондроплазия - гормональная терапия Clinical displays of a disease can be observed right after appearance of the child on light. The newborn with an achondroplasia has shorter, than usually, upper and lower extremities, and also disproportionately big head. Physical development of such kid from early age also differs from norm, and is that growth of a skeleton of the child happens unevenly. The trunk and the head increase according to age. Extremities grow in length only generally at the expense of distal departments, at the same time growth of femoral and humeral bones is considerably slowed down.

The achondroplasia is not only cosmetic defect. As a result of the disproportionate growth of a body load of a backbone and the lower extremities increases that leads to secondary deformation of a skeleton. Besides, as the intelligence at an achondroplasia practically does not suffer, the disease promotes emergence of various psychological problems. Of course, disturbances in genes cannot be corrected, however, there are treatment methods allowing to increase growth by means of surgical intervention and hormonal therapy.

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