Wolf-Hirschhorn syndrome: causes, symptoms and treatment

The said Wolf-Hirschhorn, also called Pitt syndromeIt is a rare disease that causes genetics that produces a wide variety of physical and psychological symptoms.

In this article, we’ll go over the basic information about what is known about this genetic disease, as well as the type of treatments generally recommended in these cases.

    What is Wolf-Hirschhorn Syndrome?

    Pitt syndrome, or Wolf-Hirschhorn syndrome, is a serious condition that it is already expressed from birth and that it is associated with a wide variety of signs and symptoms.

    In more detail, it is a condition that produces significant deformities in the head, as well as development delays.

    It is a rare disease and is estimated to occur in about one in 50,000 births, being much more common in girls than in boys. In fact, it is twice as likely to appear in girls.

    symptoms

    Here is a list of the main symptoms associated with Wolf-Hirschhorn syndrome.

    1. Typical facial phenotype

    People with this genetic disease usually have characteristic features of the face and relatively easy to recognize. The nasal bridge is flat and very wide, while the forehead is high.

    In addition, the gap between the mouth and the nose is very short, the eyes are generally remarkably large, and the mouth creates an “inverted smile”, with the corners facing down. Cleft lip also occurs more often than normal.

    2. Microcephaly

    Another characteristic symptom is microcephaly, that is, the fact that the capacity of the skull is significantly lower than expected for the person’s age range. This prevents the brain from developing as it should.

    3. Intellectual disability

    Both due to malformations of the skull and abnormal development of the nervous system, people with Wolf-Hirschhorn syndrome they usually suffer from a clear intellectual disability.

      4. Stunted growth

      In general, the evolution and maturation of the bodies of boys and girls occurs very slowly in virtually all aspects.

      5. Seizures

      Complications in the functioning of the nervous system they do not have rare seizures. These episodes can become very dangerous

        6. Problems with speech development

        In cases where the intellectual disability is severe, the communication initiatives presented by these people are limited to a small repertoire of sounds.

        the causes

        Although this is a genetic disease, little is known about its specific causes (being DNA and its expression something so complex), it is believed to be triggered by the loss of genetic information from part of chromosome 4 (His arm is short).

        It should be noted that the type and amount of genotype information lost varies from case to case, so different degrees of severity can occur. This explains the variability of life expectancy experienced by boys and girls born with Wolf-Hirschhorn syndrome.

          Provide

          Most fetuses or babies with Wolf-Hirschhorn syndrome die before birth or before reaching their first year of life, as the medical complications associated with this disease can become very serious. Especially the crises, heart disease and other medical problems which appear frequently in these cases, such as kidney disease, are very damaging.

          However, there are many cases of moderate severity in which the first year of life has passed or even ends its childhood, reaching adolescence. In these young people, the most characteristic symptoms are those related to their cognitive capacities, generally less developed than expected. Despite this, physical symptoms do not go away completely.

          diagnostic

          The use of ultrasound helps diagnose cases of Wolf-Hirschhorn syndrome before birth, as it results in deformities and developmental delays. However, it is also true that sometimes an incorrect diagnostic category is used, which confuses diseases. After childbirth, the assessment is much easier.

          treatment

          Being a genetic disease, Wolf-Hirschhorn syndrome is incurable, as its causes are deeply rooted in the genomic information available in each cell.

          Thus, the type of medical and psychoeducational interventions aimed at relieving the symptoms of the pathology and to promote the autonomy of these people.

          More specifically, the use of antiepileptics is very common to control as much as possible the onset of seizures, as well as surgical interventions in case of microcephaly or to correct facial deformities.

          In addition, educational support is also often widely used, especially to help with communication.

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