When we talk about achondroplasia, we are referring to a disease that affects people’s height. It is the most common type of dwarfism in society and is caused by an alteration of the body chromosomes involved in its development.
In this article we will discover what achondroplasia is and, to this end, we will analyze the causes, symptoms and whether there is currently any treatment to improve the condition of people suffering from this disease.
Achochonplasia, the most common form of dwarfism
Dwarfism is a disease that affects the growth and development of the human body; and, within this condition, achondroplasia is the most common form of this type of disease.
The origin of this condition is found in an alteration of the chromosomes that cause the body to develop unbalancedly: the spine grows normally, but the body’s long bones are shorter and therefore no homogeneous body growth is achieved.
It is common for achondroplasia to bring with itself other conditions that alter the state of health such as macrocephaly, branchidactyly or hypoplasia.
Causes of achondroplasia
But why does achondroplasia appear? The truth is that researchers shuffle different possibilities: hereditary causes and spontaneous mutations.
– Inheritance. We are faced with a condition that usually develops for hereditary reasons, when the father or mother passes him a gene that is defective and that is conducive to this disorder. In addition, if one parent has achondroplasia, the baby is more than half the chance of inheriting this condition; if both parents have it, then the odds increase by up to 75%.
– Spontaneous. Although the genetic factor is very important, the truth is that the cause of achondroplasia is unknown because, in the vast majority of the time, it occurs due to mutations that appear spontaneously in the body. That is, a healthy couple can have a baby with this disease.
What are the symptoms of achondroplasia?
In addition to a clear symptom such as the patient’s low height, the truth is that there are other symptoms of achondroplasia that is worth knowing. Here is a brief summary of the most common:
– Short height.
– Long, narrow body, with a curved appearance.
– Large head, with a prominent forehead and a slightly flattened midface.
– Very short limbs (arms and legs)
– Hyperlaxity of the joints, that is, they have a great elasticity in the body.
You should know that, in general terms, men with achondroplasia can reach 1.30 m (4’3″) and women 1.24 m (4’2″).
Is there a treatment?
The truth is that there is NOT a method that treats achondroplasia, but there are some options to reduce some of the symptoms. The best known is surgery, an intervention in which it can be increased to 35 centimeters in size by means of a bone lengthening procedure.
The bones treated in this intervention are the tibia, the fibula, the femur and the humerus, as they are the ones that can increase their length more easily. In the case of the bones of the arms, the operation can increase to 10 cm.
Bibliography
Medina, J., from Canata, M. E., Gonzalez, G., & Sostoa, G. (2008). Achodroplasia (AC) and its neurological complications: in relation to a case. Pediatrics (Assumption), 35(1), 24-28.
Alonso Álvarez, C. (2011). A new horizon. Guide to achodroplasia.
Jimenez, A. G., Arregui, S. F., Triguero, M. L., Torija, J. L., & School, L. (2008). Achodroplasia.