Seckel syndrome: causes, symptoms and treatment

Seckel syndrome is one of the congenital diseases that affect the development of people from gestation through birth and that affect both appearance and basic biological functions and 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 a person’s quality of life if proper care is not received.

In this article we will see what they are the known symptoms and causes of Seckel syndrome, and its treatment.

    What is Seckel syndrome?

    What we call Seckel syndrome is a set of physical and mental alterations that appear before birth and have genetic causes at their base.

    It is a rare disease that is characterized by a slowdown in fetal development, so its level of development is “delayed” in many ways.

    symptoms

    The main signs and symptoms associated with Seckel syndrome are as follows.

    1. Microcephaly

    It is one of the most characteristic signs of Seckel syndrome and consists of insufficient development of the cranial vaultThis makes the head small and therefore the brain has less room to develop. This is important, since this part of the nervous system must develop rapidly during this phase of life.

      2. Mental retardation

      This is one of the consequences of the reduced size of the skull compared to the rest of the body. Malformations in the brain resulting from this limited space often results in more limited cognitive development than normal, although this is not appreciated at the time of 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, the relatively large eyes and a very pronounced nasal bridge which gives the sensation of “peak”.

        4. Short height or dwarfism

        In general, people with Seckel syndrome are smaller than expected for their age group. It also affects the proportions, as the limbs are smalls in proportion to the rest of the body.

        On the other hand, due to slow maturing development, the bone configuration is also underdeveloped, which can even lead to the onset of some skeletal disorders.

        5. Other signs and symptoms

        There are other common signs and symptoms of Seckel syndrome, including the following:

        • dysplastic ears: The development of the ears is also insufficient, so its design is not as sophisticated as in other people.
        • dental dysplasia: The teeth are poorly developed and their distribution is defective, which sometimes prevents them from properly closing the mouth.
        • strabismus: The eyes are turned away, so they don’t point outward in parallel.
        • Defects in the mouth: The part of the palate presents alterations, such as the presence of gaps or an overly pronounced and narrow arch.

        diagnostic

        Seckel syndrome can be anticipated from the stage of fetal development by the use of ultrasounds (examination of malformations and bone development), although the diagnosis is made only after signs and symptoms have had time to express themselves, which occurs during the first stage of childhood but not in the weeks immediately following birth.

        the causes

        Currently, little is known about the causes of Seckel’s syndrome. However, it is known to be an alteration based on autosomal recessive genetic triggersThis implies that the defective version of a certain gene must be present in both the father and the mother in order 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 way to different types of Seckel syndrome, linked to chromosomes 3, 14 and 18.

        Treatment of Seckel syndrome

        Seckel syndrome has no known cure, as it is genetic in origin and its effects begin to be felt as soon as the fetus is formed. However, several strategies can help mitigate the negative consequences generated by the symptoms.

        In this sense, an interdisciplinary approach is necessary and skills training aimed at preventing problems resulting from specific complications such as chewing or breathing problems, as well as therapy aimed at learning the rules of behavior and relationships with others. Such initiatives must be adapted to the level of intellectual development of each patient.

        Leave a Comment