What is Winter Wolf Syndrome

Definition - What is Wolf-Hirschhorn Syndrome?

Wolf-Hirschhorn Syndrome describes one Complex of various malformationscaused by a change in chromosomes (Chromosomal aberration) arises. Above all, malformations include changes in the head, brain and heart.

The Wolf-Hirschhorn Syndrome occurs in around 1:50.000 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 Wolf-Hirschhorn Syndrome is that Missing part of chromosome 4. The larger the missing piece, the more severe the disease is. In 90% of cases the disease arises as New mutation, so it is not inherited from the parents.

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

diagnosis

If a Wolf-Hirschhorn syndrome is suspected due to the interplay of various malformations, a genetic examination. 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.
They come in at birth low birth weight and a small height and growth is also delayed in the following months and years. Are affected mentally retarded and particularly susceptible 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 and a Hearing loss or even numbness may occur. The eyes can be of one glaucoma or one grey star, astigmatism, or squint.
Children with Wolf-Hirschhorn Syndrome are more likely to suffer from it Cleft lip and palate.

Signs around the brain 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.
It can be on the hands and feet double big toe or thumb come and the fingers and toes are long and thin.

Treatment / therapy

There is no cure for Wolf-Hirschhorn Syndrome. There is a purely symptomatic therapy 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 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

The Wolf-Hirschhorn Syndrome is not curable. Around a third of children die in their first year of life. However, those affected can survive into adulthood. However, you are and can be severely restricted in your development never an independent life to lead

additional Information

Further information on the subject can be found at:

Quality assurance by: Dr. Nicolas Gumpert | Last change: 15.04.2021