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 both on the appearance and basic biological functions as well as on the processes mental.
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 manifestations unusual conditions that can seriously compromise the person's quality of life if care is not received suitable.
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 from before birth and have genetic causes at their base.
It is a rare disease that is characterized by a slowdown in the development of the fetus, so that its level of development is "delayed" in many aspects.
Symptoms
The main signs and symptoms associated with Seckel syndrome are the following.
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 room 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 space limitation often cause more limited than normal cognitive development, although this is not appreciated at birth.
- You may be interested in: "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 small size of the head, comparatively large eyes, and a very pronounced nose bridge that gives the sensation of “beak”.
4. Small stature or dwarfism
In general, people with Seckel syndrome are smaller than expected for their age group. This also affects the proportions, since the limbs are smalls in proportion to the rest of the body.
On the other hand, as a consequence of the slow maturational development, the bone configuration is also poorly developed, which can lead to the appearance of some skeletal disorders.
5. Other signs and symptoms
There are other common signs and symptoms of 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 underdeveloped and their distribution is defective, which sometimes prevents the mouth from closing well.
- Squint: the eyes are deviated, so that they do not point outward in a parallel manner.
- palate defects: 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 ultrasound (the review of malformations and bone development), although the diagnosis is not made until the signs and symptoms have had time to express themselves, which occurs during early childhood but not in the weeks immediately after birth. birth.
Causes
Currently, the causes of Seckel syndrome are poorly understood. However, it is known to be an alteration based on autosomal recessive genetic triggers, implying that the defective version of a certain gene must be present in both the father and the mother for the offspring to 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 currently known. In turn, these different origins give rise to different types of Seckel syndrome, linked to chromosomes 3, 14 and 18.
Treatment of Seckel syndrome
Seckel syndrome has no known cure, since it is of genetic origin and its effects begin to be felt 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 and interdisciplinary approach is necessary. training skills aimed at preventing problems arising from specific complications such as chewing or breathing problems, as well as therapy aimed at learning rules of behavior and relationship with others. These kinds of initiatives must be adapted to the level of intellectual development of each patient.