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Wolf-Hirschhorn syndrome: causes, symptoms and treatment

Wolf-Hirschhorn syndrome: causes, symptoms and treatment

June 11, 2024

The so-called syndrome of Wolf-Hirschhorn, also called Pitt syndrome It is a rare medical condition that causes genetic causes 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?

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


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

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

symptom

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 strikingly large, and the mouth creates an "inverted smile", with the commissures facing downwards. Cleft lip also occurs more often than normal.

2. Microcephaly

Another characteristic symptom is microcephaly, that is, the fact that Skull capacity 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

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

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4. Growth retardation

In general, the evolution and maturation of children's bodies occurs very slowly in practically all aspects.


5. Seizures

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

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6. Problems in speech development

The 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 (since DNA and its expression are so complex), it is believed that it is triggered by the loss of genetic information from a part of chromosome 4 (the short arm of this).

It must be borne in mind that the type and amount of genotype information that is lost varies depending on the case, so there are different degrees of severity that may occur. That explains the variability in life expectancy experienced by children born with Wolf-Hirschhorn syndrome.

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Forecast

Most fetuses or babies with Wolf-Hirschhorn syndrome die before they are born or before their first birthday, as the medical complications associated with this condition can become very severe. Especially, seizures, heart disease and other medical problems that appear frequently in these cases, such as kidney diseases, damage a lot.

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

Diagnosis

The use of ultrasound It makes it possible to diagnose cases of Wolf-Hirschhorn syndrome before birth, since it is expressed through malformations and delays in development. 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, as its causes are deeply rooted in the genomic information available in each cell.

Thus, the type of medical and psychoeducational interventions are oriented to alleviate the symptoms of the pathology and to favor the autonomy of these people.

In particular, the use of antiepileptic drugs is very frequent to control as much as possible the appearance of convulsions, as well as surgical interventions in case of microcephaly or to correct facial malformations.

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


Wolf Hirschhorn Syndrome - Dr. Joel Wallach (June 2024).


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