Seckel syndrome: causes, symptoms and treatment
This disease causes malformations of the head that result in a "bird-like profile".
Seckel syndrome is one of the congenital diseases that affects the that affects the development of individuals from the stage of gestation until after birth and has an impact on both appearance and basic Biological functions as well as mental processes.
Although the most obvious identifying feature is short stature or dwarfism. 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 person's quality of life if not properly cared for.
In this article we will see what are the known symptoms and causes of Seckel syndrome, as well as its treatment..
What is Seckel syndrome?
What we know as Seckel syndrome is a set of physical and mental alterations that appear before birth and have genetic causes. and have genetic causes.
It is a rare disease characterized by a slowing of 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 as follows.
Microcephaly
This is one of the most characteristic signs of Seckel syndrome, and consists of underdevelopment of the cranial vault, which causes the head to beThis causes the head to be small and, consequently, 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.
Mental retardation
This is one of the consequences of the reduced size of the skull in relation to the rest of the body. The malformations in the brain resulting from this limited space often cause a more limited cognitive development than normal, although this is not apparent at birth.
3. Bird profile
This is the name given to the appearance of the face that is common in children with Seckel syndrome. It has to do with the small size of the head, comparatively large eyes, and a very pronounced nasal bridge that a very pronounced nasal bridge which gives the impression of a "beak"..
4. Small stature or dwarfism
In general, people with Seckel syndrome are smaller than expected for their age group. This also affects proportions, since the limbs are small in proportion to the rest of the body.proportion to the rest of the body.
On the other hand, as a consequence of the slow maturational development, the bone configuration is also underdeveloped, which can 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 earsDysplastic ears: the development of the ears is also insufficient, so that its design is not as sophisticated as it usually is in other people.
- Dental dysplasiaThe teeth are underdeveloped and their distribution is defective, which sometimes prevents the mouth from closing properly.
- StrabismusThe eyes are deviated, so that they do not point outward in a parallel manner.
- Defects in the palateThe palate part presents alterations, such as the presence of hollows or a too pronounced and narrow vault.
Diagnosis
Seckel syndrome can be anticipated as early as the developmental phase of the fetus through the use of ultrasound (checking for 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 infancy but not in the weeks immediately after birth.
Causes
Currently, the causes of Seckel syndrome are poorly understood. However, it is known to be a disorder based on genetic triggers. based on autosomal recessive genetic triggers, which means that the defective version of Seckel syndrome is a genetic disorder.This implies that the defective version of a certain gene must be present in both the father and the mother for the offspring to express symptoms.
On the other hand, there is no 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 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 genetic in origin and its effects begin to be felt as soon as the fetus is formed. However, there are a number of strategies that can help to alleviate the negative consequences of the symptoms..
In this regard, an interdisciplinary approach is necessary, as well as training of skills aimed at preventing problems arising from specific complications, such as problems with chewing, chewing, etc. such as problems with chewing or breathing, as well as therapy aimed at learning rules of behavior and relationships with others. These kinds of initiatives should be adapted to the level of intellectual development of each patient.
(Updated at Apr 14 / 2024)