There is a large number of elements in which different human beings can differ. When it comes to physique, some of the clearest and most obvious examples are the color or properties of the eyes, hair or skin, or weight or height.
Unlike what happens with aspects such as personality or different cognitive abilities, these characteristics They are determined mainly at the genetic level, as occurs in the case of the propensity to suffer from some diseases In fact, it is not uncommon for some conditions of genetic origin to give rise to unusual phenotypes or body shapes.
An example of this is achondroplasia, one of the main causes of the appearance of the condition known as dwarfism. And it is about this genetic alteration and its different effects that we are going to talk about throughout this article.
It is called achondroplasia. a disease of genetic origin which is one of the main causes of dwarfism worldwide
Although it is relatively well known among the population, the truth is that it is an alteration considered rare, occurring in only around 2.5 out of every 100,000 births in Spain and 1 out of every 25,000 births worldwide. It is a chondrodysplasia a type of alteration that involves irregularities or delays in the formation of cartilage.
Symptoms
In the case of achondroplasia, throughout the development of the subject, a problem is generated in the cells that allow bone growth and the transformation from cartilage to bone. This causes accelerated calcification of the bones to appear, which prevents them, and especially those of the extremities, from developing to the usual measurements.
This means that achondroplasia generates rhizomelic dwarfism (in the bones of the forearm and thigh), in which the trunk has normative measurements while the extremities stop growing lengthwise
Another symptom of achondroplasia is macrocephaly, with frontal prominence and hypoplasia of the middle third of the face. This means that generally people who suffer from this alteration have a relatively large head compared to the rest of the body, as well as a more prominent forehead or front part of the face
Brachydactyly also appears, so that the fingers and toes and their bones are much shorter than usual (although in general and except in some cases it does not have to affect the functionality of the hand), and hyperlordosis or extreme curvature of the spine.
Far from being a condition that affects only visually or aesthetically, the truth is that achondroplasia is an alteration that can cause a host of health problems and complications Although at an intellectual level there is usually no type of alteration (achondroplasia per se does not generate alterations at a cognitive level), the truth is that there is usually a certain delay in the development of motor skills.
There is also usually hypotonia and greater ease of fatigue. Likewise, it is not uncommon for problems such as obstructive sleep apneas to appear, as well as otitis that can affect auditory perception. Also there is a greater risk of neurological and cardiovascular problems s, in addition to a tendency to obesity. Finally, those who suffer from achondroplasia usually have a higher risk of infections and respiratory conditions.
More serious, although also less frequent, are alterations such as spinal compression and the increased possibility of suffering from hydrocephalus (an excess or accumulation of fluid in the brain that could threaten the subject’s life or that could generate intellectual disability). In fact, there is a relevant risk of mortality during childhood due to these types of complications, as well as due to airway obstruction. In homozygous cases, achondroplasia is usually lethal already during the fetal period.
However, if complications do not occur, the life expectancy and intellectual capacity of people with achondroplasia are no different from those of the rest of the population without this alteration.
Difficulties in other vital areas
The impact of achondroplasia does not only occur at a health level, but can also imply the appearance of different difficulties in daily life, harming the quality of life of the affected person.
For example, Most infrastructures or even furniture are usually designed for people with a much larger stature so the simple act of sitting in a chair or driving a car represents difficulty unless you have the appropriate supports.
It is also common for people with achondroplasia to tend to fatigue more easily, something that can make it difficult to carry out various activities, both work and leisure.
The quality of sleep of these people may decrease if they suffer from obstructive apnea. In case of pregnancy, women with achondroplasia usually need to resort to a cesarean section, due to the small size of their pelvic bones.
In addition to this and especially during childhood development and adolescence, People with this disorder may encounter difficulties on a social level and suffer isolation, harassment, ridicule, humiliation or simply unwanted attention from others. Likewise, and as a consequence of this, in some cases anxiety or depression problems also tend to appear.
Causes of this alteration
Achondroplasia is, as we have seen previously, a medical condition of genetic origin. Specifically, it has been observed the presence of mutations in the FGFR3 gene (on the short arm of chromosome 4), which is fibroblast growth factor receptor 3.
This gene participates in bone growth and the transformation of cartilage into bone its mutation being the one that generates the aforementioned accelerated calcification of the bones and a blockage of their growth due to insufficient differentiation of the tissue.
Although it can be hereditary, and generally in parents with achondroplasia there is a 50% risk of transmitting it and having autosomal dominant inheritance, in general the vast majority of cases are usually new de novo mutations. That is, generally appears as a spontaneous mutation in the subject’s genome without parents having to suffer the same problem.
Do you have treatment?
Achondroplasia is a medical condition of genetic and congenital origin and as such it does not have a curative treatment. However, treatment from a multidisciplinary approach is possible and may be necessary in order to correct possible complications and prevent the appearance of disabilities or difficulties in daily life, both in children and adults.
To begin with, in the case of hydrocephalus or spinal cord compression, it is essential to act as quickly as possible in order to correct the problem and avoid serious complications or dysfunctions, using surgical interventions if necessary. The goal would be to reduce intracranial pressure and/or drain excess fluid in case of hydrocephalus or decompress and correct spinal problems. Treatment with growth hormone has sometimes been used, as well as interventions to correct the curvature of the extremities.
Beyond the treatment described so far, it will be very important the inclusion of physiotherapy and the performance of exercises and practices to stimulate mobility and allow you to adjust and strengthen your posture and muscles. It may also be necessary to work on fine and gross motor skills, in order to facilitate the development of basic skills on a daily basis.
In some cases speech therapy work may be necessary, especially if there are hearing or phonatory problems. Nutrition should also be worked on in order to prevent possible cardiovascular or respiratory problems that could appear in case of obesity or poor diet.
Lastly, also On a psychological level, professional intervention may be necessary, especially when there are anxious or depressive symptoms
You can work on self-esteem and self-concept, cognitive restructuring to modify dysfunctional beliefs, stress and anger management or the presence of day-to-day difficulties derived from both physical problems and possible social problems. Boosting self-esteem and autonomy is also very helpful.
At an educational level, the aid that these people may need must be offered, so that their performance and integration in these areas is allowed. The provision of adjusted aid may include the use of support material or the person’s curricular adaptation. Also at the work level, people with achondroplasia may require adaptations mainly linked to ergonomics and the physical difficulties of these people.
