Wolf-Hirschhorn syndrome: causes, symptoms and treatment

The so-called syndrome Wolf-Hirschhorn, also called Pitt syndromeIt is a rare medical condition that causes genetics that produces a wide variety of symptoms, both physical and psychological.

In this article we will review the basic information of what is known about this genetic disease, as well as the type of treatments that are normally recommended in these cases.

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What is Wolf-Hirschhorn syndrome?

Pitt syndrome, or Wolf-Hirschhorn syndrome, is a serious pathology that already expressed from birth and that it is associated with a whole set of highly varied signs and symptoms.

More in detail, it is a condition that produces important malformations in the head, as well as developmental delays.

It is a rare disease, and it is estimated that it appears in approximately one in every 50,000 births, being much more frequent in girls than in boys. In fact, there are twice the chances of it appearing in girls.

Symptoms

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

1. typical facial phenotype

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

In addition, the difference between the mouth and the nose is very short, the eyes are usually conspicuously large, and the mouth creates an "inverted smile", with the corners turned downward. Cleft lip also occurs more frequently than normal.

2. microcephaly

Another characteristic symptom is microcephaly, that is, the fact that the capacity of the skull is significantly less than expected for the age range of the person. This causes the brain to not develop as it should.

3. intellectual disability

Due to both skull malformations and abnormal development of the nervous system, people with Wolf-Hirschhorn syndrome often experience clear intellectual disability.

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4. growth retardation

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

5. seizures

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

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6. Problems in the development of speech

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

Causes

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

It must be taken into account that the type and amount of genotype information that is lost varies from case to case, so there are different degrees of severity that can occur. That explains the variability in life expectancy. experienced by boys and girls born with Wolf-Hirschhorn syndrome.

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Forecast

Most fetuses or babies with Wolf-Hirschhorn syndrome die before birth or before meet their first year of life, since the medical complications associated with this condition can become very severe. especially seizures, heart disease and other medical problems that frequently appear in these cases, such as kidney diseases, are very damaging.

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

Diagnosis

The use of ultrasound makes it possible to diagnose cases of Wolf-Hirschhorn syndrome before birth, since it is expressed through malformations and developmental delays. However, it is also true that sometimes an incorrect diagnostic category is used, confusing diseases. After delivery, the evaluation is much easier.

Treatment

Being a genetic disease, Wolf-Hirschhorn syndrome has no cure, since its causes are deeply rooted in the genomic information available in each cell.

Thus, the type of medical and psychoeducational interventions are aimed at alleviating the symptoms of the pathology and to favor the autonomy of these people.

Specifically, the use of antiepileptic drugs is very common to control as far as possible the onset of of seizures, as well as surgical interventions in case of microcephaly or to correct malformations facials.

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