Wolf-Hirschhorn Syndrome

Definition – What is a Wolf-Hirschhorn Syndrome?

The Wolf-Hirschhorn syndrome describes a complex of different malformations, which are caused by a change in the chromosomes (chromosomal aberration). The malformations include above all changes in the head, brain and heart. The Wolf-Hirschhorn syndrome occurs in about 1:50.

000 children. It affects girls more frequently than boys (2:1). About one third of those affected die during the first year of life.

Cause

The cause of the Wolf-Hirschhorn syndrome is the absence of a piece of chromosome 4. The larger the missing piece, the more severe is the manifestation of the disease. In 90% of cases, the disease develops as a new mutation, i.e. it is not inherited from the parents.

Diagnosis

If a wolf deer horn syndrome is suspected due to the interaction of various malformations, a genetic examination is performed. Here the mutation or the absence of a part of chromosome 4 can be detected.

I recognize a wolf deer horn syndrome by these symptoms

In case of a wolf deer horn syndrome a number of symptoms and malformations are known, which can occur, but not all of them have to occur. Already at birth, a low birth weight and a low height are noticeable and growth is also delayed in the following months and years. Those affected are mentally handicapped and particularly susceptible to infections, especially of the upper respiratory tract.

The following malformations or changes may occur in the head and face area: long skull, high forehead, enlarged eye relief, protruding eyeballs, drooping eyelids and short neck. In the area of the ears, deep set ears may be noticeable as well as hearing loss or even deafness. The eyes may be affected by glaucoma or cataracts, astigmatism or strabismus.

Children with a wolf deer horn syndrome suffer more frequently from cleft lip and palate. The signs in the area of the brain include Underdevelopment of the cerebellum, epilepsy, and movement disorders due to brain damage. The heart may have valvular defects, cardiac dysrhythmia and a defect of the atrial septum. Furthermore, malformations of the internal organs such as kidneys and genitals can occur. On the hands and feet, double big toes or thumbs can occur and the fingers and toes are long and thin.