Seckel syndrome: causes, symptoms and treatment
Seckel syndrome is one of the congenital diseases that affect the development of people from the stage of gestation until after birth and that has repercussions on appearance and basic biological functions as well as on mental processes.
Although the identifying element that is most evident is short stature or dwarfism and, in most cases, the shape of the nose, behind this clinical picture there are many other unusual manifestations that can seriously compromise the quality of life of the person if the appropriate attentions are not received.
In this article we will see what they are the symptoms and known causes of Seckel syndrome, as well as its treatment .
- Related article: "Dwarfism: causes, symptoms and associated disorders"
What is Seckel syndrome?
What we know as Seckel syndrome is a set of physical and mental alterations that appear before birth and they have genetic causes at their base.
It is a rare disease that is characterized by a slowing down of the development of the fetus, so that its level of development is "delayed" in many aspects.
symptom
The main signs and symptoms associated with Seckel syndrome are as follows.
1. Microcephaly
This is one of the most characteristic signs of Seckel syndrome, and consists of insufficient development of the cranial vault , which makes the head small and, therefore, the brain has less space to grow. This is important, considering that this part of the nervous system must expand rapidly during this phase of life.
- Related article: "Microcephaly: symptoms, characteristics and treatment"
2. Mental retardation
This is one of the consequences of the reduced size of the skull in relation to the rest of the body. Malformations in the brain that result from this limitation of space often cause a more limited cognitive development than normal, although this is not appreciated at the time of birth.
- Maybe you're interested: "Types of intellectual disability (and characteristics)"
3. Bird profile
This is the name by which the appearance of the face that is common in children with Seckel syndrome is called. It has to do with the reduced size of the head, comparatively large eyes, and a very pronounced nasal bridge that gives the sensation of "peak" .
4. Small stature or dwarfism
In general, people with Seckel syndrome are smaller than what is expected for their age group. This also affects the proportions, since the extremities are small s in proportion to the rest of the body.
On the other hand, as a consequence of the slow maturational development, bone configuration is also poorly developed, which may lead to the appearance of some skeletal disorders.
5. Other signs and symptoms
There are other common signs and symptoms in Seckel syndrome, among which the following are common:
- Dysplastic ears : the development of the ears is also insufficient, so that their design is not as sophisticated as it usually is in other people.
- Dental dysplasia : the teeth are poorly developed and their distribution is defective, which sometimes prevents closing the mouth well.
- Squint : the eyes are deflected, so that they do not point outwards in parallel.
- Defects on the palate : the part of the palate presents alterations, such as the presence of holes or a vault that is too pronounced and narrow.
Diagnosis
Seckel syndrome can be anticipated from the stage of fetal development through the use of ultrasounds (the review of malformations and the development of bones), although the diagnosis is not made until the signs and symptoms have had time to express themselves, which occurs during the first stage of childhood but not in the weeks immediately after birth.
Causes
Currently, the causes of Seckel syndrome are poorly understood. However, it is known that it is an alteration based on genetic triggers of autosomal recessive type , which implies that the defective version of a certain gene must be present in both the father and the mother so that the offspring express the symptoms.
On the other hand, there is not a single gene that produces the symptoms of Seckel syndrome, but three genetic alterations linked to this disease are known at the moment. In turn, these different origins give way to different types of Seckel syndrome, linked to chromosomes 3, 14 and 18.
Treatment of Seckel's syndrome
Seckel syndrome has no known cure, since it is of genetic origin and its effects begin to be noticed from the formation of the fetus. However, there are several strategies that can help alleviate the negative consequences that the symptoms generate .
In this sense, an interdisciplinary approach and the training of skills aimed at preventing problems derived from specific complications as for example the problems to masicar or to breathe, as well as therapy directed to learn norms of behavior and of relation with the others. This kind of initiatives must be adapted to the level of intellectual development of each patient.
