Wolf-Hirschhorn Syndrome

Definition - What is Wolf-Hirschhorn Syndrome?

The Wolf-Hirschhorn syndrome describes a complex of different malformations caused by a change in the chromosomes (Chromosomal aberration) arises. Above all, malformations include changes in the head, brain and heart.

Wolf-Hirschhorn syndrome occurs in about 1 in 50,000 children. It affects girls more often than boys (2: 1). About a third of those affected die in the course of their first year of life.

root cause

The cause of the Wolf-Hirschhorn syndrome is the lack of a piece of chromosome 4. The larger the missing piece, the more severe the severity of the disease. In 90% of the cases the disease arises as a new mutation, so it is not inherited from the parents.

Read more on the subject at: Chromosome aberration - what is it?


If a Wolf-Hirschhorn syndrome is suspected due to the interplay of various malformations, a genetic test is carried out. The mutation or the missing part of chromosome 4 can be detected here.

I recognize Wolf-Hirschhorn syndrome from these symptoms

A number of symptoms and malformations are known in Wolf-Hirschhorn syndrome, which can occur, but not all of them have to occur.
Already at birth, a low birth weight and height are noticeable and growth is also delayed in the following months and years. Those affected are mentally disabled and particularly prone to infections, especially of the upper respiratory tract.
The following malformations or changes can occur in the area of ​​the head and face: long skull, high forehead, enlarged eye relief, protruding eyeballs, drooping eyelids and a short neck.
In the area of ​​the ears, deep-seated ears can be noticed, as well as hearing loss or even deafness. The eyes may have glaucoma or cataracts, astigmatism, or squint.
Children with Wolf-Hirschhorn Syndrome are more likely to have cleft lip and palate.

Symptoms in the brain area include: underdevelopment of the cerebellum, epilepsy, and movement disorders due to brain damage.
Heart valve defects, cardiac arrhythmias and atrial septal defect can occur in the heart. Furthermore, malformations of the internal organs such as kidneys and genitals can occur.
There may be double big toes or thumbs on the hands and feet, and the fingers and toes are long and thin.

Treatment / therapy

There is no cure for Wolf-Hirschhorn Syndrome. A purely symptomatic therapy is carried out with the aim of increasing the quality of life of those affected. This includes various forms of therapy such as occupational therapy, physiotherapy, speech therapy and the surgical correction of some malformations. Drug treatment for epilepsy should also be used. In some cases, artificial feeding is carried out using a gastric tube to prevent underweight.

Read more on the subject at: Medicines for epilepsy

Duration / forecast

There is no cure for Wolf-Hirschhorn Syndrome. Around a third of children die in their first year of life. However, those affected can survive into adulthood. However, your development is severely restricted and you can never lead an independent life