This disease produces malformations in the head that make it have a “bird profile”.
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 appearance and basic biological functions as well as on mental processes.
Although the most obvious identifying element 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 patient. person if proper care is not received.
In this article we will look at 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 are based on genetic causes.
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.
The main signs and symptoms associated with Seckel syndrome are as follows.
This is one of the most characteristic signs of Seckel syndrome, and consists of underdevelopment 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.
2. 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 that result from this space limitation often cause more limited cognitive development than normal, although this is not appreciated at birth.
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3. Bird profile
This is the name for the facial appearance 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 bridge of the nose that gives the sensation 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 the proportions, since the limbs are small 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 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 ears : the development of the ears is also insufficient, so that their design is not as sophisticated as it is usually in other people.
- Dental dysplasia : the teeth are underdeveloped and their distribution is defective, which sometimes prevents the mouth from closing properly.
- Strabismus : the eyes are deviated, so that they do not point out in a parallel way.
- Defects in the palate : the part of the palate shows alterations, such as the presence of holes or a too pronounced and narrow vault.
Seckel syndrome can be anticipated from the developing phase of the fetus through the use of ultrasound (review of malformations and bone development), although the diagnosis is not made until signs and symptoms have had time to express themselves. , which occurs during early childhood but not in the weeks immediately after birth.
Currently, the causes of Seckel syndrome are poorly understood. However, it is known to be an alteration based on autosomal recessive genetic triggers, which 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 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.
Seckel syndrome treatment
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 training of skills aimed at preventing problems derived from specific complications such as chewing or breathing problems is necessary, as well as therapy aimed at learning rules of behavior and relationship with others. This class of initiatives must be adapted to the level of intellectual development of each patient.