Wolf-Hirschhorn Syndrome

By | June 10, 2022

The doctor understands the Wolf-Hirschhorn syndrome to be a complex of symptoms consisting of various malformations. The syndrome occurs due to a structural anomaly of chromosome four, which usually corresponds to a new mutation. The disease is incurable and can therefore only be treated symptomatically.

What is Wolf-Hirschhorn Syndrome?

The Wolf-Hirschhorn syndrome or Wolf syndrome is a genetically determined symptom complex of malformations. The clinical picture corresponds to a structural chromosome aberration, i.e. a structural anomaly of the chromosome set. The leading symptom of the syndrome is short stature. The physical and mental development of the affected children is severely delayed and is accompanied by various malformations. The prevalence of the disease is estimated at one in 50,000. For definitions of intertrigo, please visit topbbacolleges.com.

Within Germany there are just over ten newly diagnosed cases per year. Girls are slightly more likely than boys to be affected by the complex of symptoms. Ulrich Wolf and Kurt Hirschhorn independently described the disease for the first time in the 20th century. Until 1998 speak Americanresearcherof only 120 documented cases. As a result, many cases of Wolf syndrome have gone undetected into the 21st century.


Wolf-Hirschhorn syndrome is caused by a chromosomal abnormality in the short p-arm of chromosome four. Those affected are missing sections of varying sizes in this area. An approximately 165 kilobase pair deletion in band 4p 16.3 is the smallest anomaly that can cause the symptoms of Wolf syndrome. In around 90 percent of the cases, the mutation of chromosome four occurs from scratch. This means that the Wolf-Hirschhorn syndrome is not usually inherited, but arises anew in the paternal chromosome.

In ten percent of cases, a balanced translocation from one parent’s chromosomes causes the malformation complex. A section of chromosome four is transferred to another chromosome. If such a repositioning of chromosome segments caused the disease, then there is a 50 percent chance that a second child of the parents will also develop Wolf-Hirschhorn syndrome.

Symptoms, Ailments & Signs

Facial malformations occur in all Wolf syndrome patients. These include, in particular, enlarged sections of the eye with sloping lid axes and a wide nose or small jaw. A high forehead or a long skull are just as common. The same applies to protruding or widely spaced eyes, upper lip ridges, cleft palate, downturned corners of the mouth, and scalp defects or a chin turned backwards.

Those affected often have a short neck and deep-set, partially deaf ears. The eyes often tremble or are affected by glaucoma or cataracts from birth. Cleft irises, squinting or astigmatism can also occur. In connection with the brain, a constriction of the brain often occurs due to early hardening of all cranial sutures, underdevelopment of the cerebellum or an epileptic disposition.

In addition to malformations of the kidneys, there are also often malformations of the heart with cardiac arrhythmia or heart valve defects. Sometimes the genitals and extremities are also malformed, such as in the shape of a doubled thumb.

Diagnosis & course of disease

A low birth weight, combined with susceptibility to infections, small size and developmental disorders, can give a doctor the first signs of the disease. The definitive diagnosis can rarely or only uncertainly be made through examinations. The physician is therefore more likely to use fluorescence in situ hybridization to confirm the first suspicion.

This is a cytogenetic method that detects numerical and structural chromosomal abnormalities. Fluorescence-labeled DNA probes are used as markers. The prognosis for patients with Wolf-Hirschhorn syndrome is poor. Around a third of all those affected die within the first year of life. The prognosis is slightly better for girls than for male patients. For example, about two thirds of the patients who survive the first year of life are female.


Due to the Wolf-Hirschhorn syndrome, those affected suffer from a number of malformations and malformations that have a very negative effect on the quality of life and everyday life of the affected person. As a rule, this results in a very wide nose and a relatively small jaw.

The intake of food and liquids can also be made significantly more difficult due to the Wolf-Hirschhorn syndrome. Bullying or teasing also occurs, especially in children, so that the patients often suffer from psychological problems or depression. Parents and relatives are often affected by these symptoms as well.

The syndrome also leads to permanent squinting and possibly other visual problems. Heart disorders or even a heart valve defect also occur, which can be fatal for the person concerned. Some patients also present with a double thumb.

The treatment of the Wolf-Hirschhorn syndrome is usually purely symptomatic, so that the course of the disease is not completely positive. It cannot generally be predicted whether life expectancy will be reduced as a result of the syndrome.

When should you go to the doctor?

Normally, delivery takes place under the supervision and supervision of medical staff. Immediately after delivery, the members of the obstetric team automatically and independently check the health of the newborn child. The first irregularities and abnormalities in health are documented. In acute cases, the first interventions are already carried out at this stage. Further medical tests are then carried out to clarify the symptoms.

Ultimately, this disease is diagnosed within the first few days or weeks of life, since the health problems are severe. For this reason, parents or relatives of the child do not have to take action themselves. The Wolf-Hirschhorn syndrome already shows during birth through optical irregularities that require action.

If the abnormalities go unnoticed, health problems will become apparent within the first few weeks at the latest. Parents should take their child to a doctor if they notice optical changes in the facial area or if the position of the eyes does not correspond to the natural position. Disorders of the heart rhythm or deformations of the limbs are considered signs of an existing disease. A visit to the doctor is necessary because the newborn child needs medical care at an early age.

Treatment & Therapy

So far, the Wolf-Hirschhorn syndrome is incurable. This means that no causal therapies are available. Treatment of the symptoms is within the realm of possibility. However, not all of them can be treated satisfactorily. At the beginning, a high-calorie diet is prescribed in particular, which is intended to compensate for the patient ‘s underweight. Physiotherapy and ergotherapeutic measures are used to support motor development.

Some malformations in patients can be corrected surgically, such as doubled fingers or toes. The doctor usually prescribes medication for symptoms such as epilepsy. In this context, administration of valproic acid or potassium bromide is indicated most frequently. The mental development of the patients is supported by therapeutic steps. Among other things, speech therapists can fulfill this purpose. The aim of symptomatic treatment is, in particular, to improve the quality of life.

Ideally, the child, but also the parents, will receive intensive care as part of the therapy. If necessary, a psychotherapist can assist the parents. Although there are no causal therapies to date, the Wolf-Hirschhorn syndrome may be curable in the future. Medical research is currently working, for example, on the replacement of defective genes, which may in future alleviate the malformation complex through the early replacement of chromosome four.


Like any other chromosome mutation, Wolf-Hirschhorn syndrome cannot be prevented. However, parents who have already given birth to a child with the malformation complex can have the probability of the disease assessed for future offspring and thus prevent a recurrence if necessary.


As a rule, those affected by Wolf-Hirschhorn syndrome have only very few and only very limited direct follow-up measures available. Therefore, if you have this disease, you should consult a doctor as early as possible and also initiate treatment so that complications or other symptoms do not occur as the disease progresses.

Therefore, in this disease, early diagnosis and subsequent treatment of this disease is paramount. Since the Wolf-Hirschhorn syndrome is a hereditary disease, it cannot usually be completely cured. If you wish to have children, a genetic test and counseling should always be carried out to prevent the disease from recurring in the offspring.

As a rule, those affected by Wolf-Hirschhorn syndrome are dependent on the measures of physiotherapy and physiotherapy. This can alleviate some of the symptoms. Furthermore, the support of one’s own family in everyday life is very important.

Sometimes depression and other mental upsets can be prevented or reduced in this way. Contact with other people affected by the syndrome is often useful, as this leads to an exchange of information. The life expectancy of those affected is usually not reduced by this disease.

You can do that yourself

The symptomatic therapy of the Wolf-Hirschhorn syndrome can be supported by the sick person and their relatives with a series of general measures.

An adapted diet counteracts underweight. Affected children need a high-energy diet, which may need to be supplemented with food supplements. The various physical deformities are treated through physiotherapy, speech therapy and occupational therapy. Physiotherapy as well as speech and movement exercises can be carried out at home. In the event of an epileptic seizure, the emergency services must be called. If available, the patient is given a rescue medication, such as valproic acid. Wolf-Hirschhorn syndrome requires long-term treatment, which is best planned together with the responsible pediatrician.

In addition to organizing doctor’s appointments and surgical procedures, the child must be registered at a special kindergarten. For this purpose, the doctor provides the necessary contact points. Children who are a little older can be informed about their illness. It is advisable to use age-appropriate reading material. At best, the treating pediatrician is also present and can answer open questions from the child. Close cooperation with the responsible physicians is also necessary during the treatment of Wolf-Hirschhorn syndrome.

Wolf-Hirschhorn Syndrome