Wolf-Hirschhorn syndrome, also called Pitt syndrome , is a rare medical condition that is genetically caused and produces a wide variety of both physical and psychological symptoms.

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.

What is Wolf-Hirschhorn Syndrome?

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

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

It is a rare disease, estimated to occur in approximately one in 50,000 births, and is much more common in girls than in boys. In fact, it is twice as likely to appear 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 are 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 facing downwards. Cleft lip also occurs more frequently than normal.

2. Microcephaly

Another characteristic symptom is microcephaly, i.e. the fact that the capacity of the skull is significantly lower than expected for the person’s age range. This means that the brain does not develop as it should.

3. Intellectual disability

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

4. Delayed growth

In general, the evolution and maturation of children’s bodies takes place 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

6. Problems in the development of speech

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

Causes

Although little is known about the specific causes of this genetic disease (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 chromosome 4).

It should be noted 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. This explains the variability in life expectancy experienced by children born with Wolf-Hirschhorn syndrome.

Prognosis

Most fetuses or babies with Wolf-Hirschhorn syndrome die before birth or before their first birthday, as the medical complications associated with this condition can be very severe. In particular, the seizures , heart disease, and other medical problems that often occur in these cases, such as kidney disease, are very damaging.

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

Diagnosis

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

Treatment

As 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 at promoting the autonomy of these people.

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

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