Walker-Warburg Syndrome

By | June 10, 2022

Walker-Warburg Syndrome is an extremely rare inherited disorder that affects the brain as well as the eyes and muscles. The symptoms that are already recognizable at birth usually lead to the death of the affected and severely disabled children after only a few months. So far there is no form of therapy to treat or even cure Walker-Warburg syndrome.

What is Walker-Warburg Syndrome?

Walker -Warburg Syndrome (WWS) was named after Arthur Earl Walker and Mette Warburg and was first described by them in 1942. On average, out of around 40,000 newborn children, one suffers from this very rare hereditary disease. For definitions of mineral deficiency, please visit lawfaqs.net.

Walker-Warburg syndrome is a serious form of lissencephaly (derived from the Greek lissos, meaning smooth) in which the normally ridged cerebral cortex has a smooth surface. Walker-Warburg syndrome is caused by faulty nerve development in the cerebellum. This malformation of the brain leads to serious symptoms, which often cause the formation of a so-called water head (hydrocephalus) in the affected newborns, but also malformations of the eyes and the so-called cleft lip and palate as well as breathing problems.

Therefore, most of the newborns suffering from Walker-Warburg syndrome are artificially ventilated immediately after birth. However, many children are stillborn due to Walker-Warburg syndrome.


The cause of the Walker-Warburg syndrome lies in a multiple gene mutation, whereby the error in the genetic material can be traced back to different chromosomes. Walker-Warburg syndrome is one of the autosomal recessive hereditary diseases.

This means that the changed genes do not have any sex-specific characteristics (autosomal) and the existing gene change only leads to Walker-Warburg syndrome if both father and mother pass this predisposition on to their child (recessive).

The hereditary disease only breaks out if both parents have a genetic defect and pass it on to the child, although even in this case only around 25 percent of newborns actually develop Walker-Warburg syndrome.

Symptoms, Ailments & Signs

The disease shows numerous severe symptoms. Lissencephaly is present, which means that the furrows and convolutions of the cerebral cortex are missing or are only rudimentarily present. The cerebellum is significantly reduced in size. The malformations cause reduced growth and severe muscle dysfunction, causing the limbs to hang limply on the body.

The children do not learn to move, crawl or walk and they cannot change their position independently. They remain in their development at the stage of an infant. Breathing problems often occur immediately after birth. Eating is difficult, they always have to be fed.

Since they inhale the food rather than swallow it, this increasingly leads to pneumonia ( aspiration pneumonia ). The little ones are aware of their surroundings, but cannot follow moving objects or people with their eyes. The eyes are not developed normally, often the children are blind or have a star. They cannot speak and usually have a cleft lip and palate.

Hearing is also impaired. Some sufferers develop hydrocephalus (hydrocephalus) due to excessive fluid buildup in the ventricles of the brain. A fluid-filled sac at the back of the head (encephalocele) can also develop. Due to the severe malformations in the brain, mental abilities are severely impaired. The children often suffer from epileptic seizures.

Diagnosis & History

In order to diagnose Walker-Warburg syndrome, the pediatrician or other specialist staff uses magnetic resonance imaging or computer tomography to determine whether the suspicion (due to the typical symptoms already present after birth) is hardening.

In order to obtain an absolutely reliable diagnosis as to whether the child actually suffers from Walker-Warburg syndrome or another disease with similar symptoms, the child is also subjected to a blood test. In cases where both parents are known to have a hereditary disease, Walker-Warburg syndrome can also be diagnosed by prenatal amniotic fluid extraction, which is then genetically tested.

Ultrasound examinations are also used in prenatal suspicion of Walker-Warburg syndrome, but they only provide information about a general maldevelopment of the brain, but not for a reliable diagnosis of this hereditary disease.

In its severe form, Walker-Warburg syndrome is fatal, with many of the affected newborns being born dead. Live births with Walker-Warburg syndrome usually only live for a few months, with the milder form of the disease for a maximum of two to three years.


The Walker-Warburg syndrome is associated with severe malformations and thus severe limitations in the everyday life of those affected. As a rule, those affected suffer from a cleft palate, so that there can be discomfort when taking food and liquids. Dehydration or other deficiency symptoms can also occur due to Walker-Warburg syndrome and make everyday life difficult for the patient.

There is also hydrocephalus and, in many cases, breathing difficulties and a significantly reduced brain size. Most patients also suffer from vision problems or eye pain as a result of the disease. Mental and psychological complaints are also not uncommon in Walker-Warburg syndrome and have a very negative effect on the patient’s quality of life.

In many cases, the patients are dependent on the help of other people in their everyday life and can no longer easily carry out many everyday things. Parents or relatives can also be affected by mental health problems. Since a causal treatment of Walker-Warburg syndrome is not possible, only the individual symptoms can be treated. There are no particular complications. Whether the Walker-Warburg syndrome leads to a reduced life expectancy in the patient cannot be universally predicted.

When should you go to the doctor?

The affected person should definitely contact a doctor if they have Walker-Warburg syndrome. Since this is a hereditary disease, it cannot heal on its own, although complete healing is not possible anyway. However, an early diagnosis always has a positive effect on the further course of the disease, so that the person affected should contact a doctor as soon as the first symptoms of Walker-Warburg syndrome appear.

In most cases, however, the affected children die a few months after birth, so that parents and relatives in particular should consult a psychologist to prevent depression and other mental upsets. The syndrome is usually diagnosed before birth.

A doctor should be consulted if the child suffers from breathing difficulties or hearing problems. Various malformations and malformations occur on the face, which can also point to this disease. Since the treatment of this syndrome can be purely symptomatic, the symptoms cannot be completely alleviated, so that the child dies prematurely.

Treatment & Therapy

The treatment of children affected by Walker-Warburg Syndrome is limited to artificial respiration immediately after birth by the medical staff and to the loving and sensitive handling of the infant or small child born with Walker-Warburg Syndrome on the part of the parents and relatives, since no effective form of therapy has yet been found for either the causes or the effects of this hereditary disease.

During the usually very short life of their child and especially afterwards, the parents and surviving dependents affected by Walker-Warburg syndrome can give themselves comfort, support and help in self-help groups, because within these groups, which have arisen through similar experiences and grieving processes, the processing takes place the effects of Walker-Warburg Syndrome make it much easier to get back to “normal” life.


In principle, there are no preventive measures for Walker-Warburg syndrome to avoid the disease. However, in the case of a genetic defect that is already known to both parents, but also in the event of any abnormalities within the family or in the case of high-risk pregnancies, prenatal diagnostics can help ensure that Walker-Warburg syndrome is detected early, so that the parents and those around them can prepare for the impending the course of the disease and the associated, unavoidable consequences.


Since Walker-Warburg syndrome cannot be treated causally and inevitably leads to infant death within the first year of life, no aftercare is possible for the affected patients. However, the development of Walker-Warburg syndrome is hereditary. The follow-up treatment is therefore aimed at the parents and close relatives of the affected child, especially siblings.

If they become pregnant again, parents should have a prenatal diagnosis carried out in order to be able to recognize at an early stage whether the child is also affected by Walker-Warburg syndrome. If this is the case, the pregnancy can be terminated early if the parents so wish. Special counseling centers for pregnancy conflict counseling help to support decision-making.

In any case, a prenatal diagnosis brings certainty about the health of the unborn child. In addition, psychotherapeutic support can be helpful for the parents of a child affected by Walker-Warburg syndrome in order to cope with the personal burden that results for the parents from the child’s illness.

If depression develops in one of the parents, drug therapy with antidepressants may also be indicated. Healthy relatives and siblings of a person with Walker-Warburg syndrome should have a genetic test done to find out if they are carriers. If this is the case, prenatal diagnostics should also be carried out for all pregnancies of siblings of an affected child.

You can do that yourself

This serious genetic disease offers hardly any scope for improving the overall situation for all those affected. Rather, self-help lies in the area of ​​dealing with the disease. In most cases, the patient dies within a few weeks or months of life due to the various symptoms.

To alleviate existing health irregularities, cooperation with the treating physicians is important. The support of a psychotherapist can be perceived as helpful in coping with the illness, especially by the relatives. Dealing openly with one’s own feelings and ideas is advisable so that the behavior of the parents can be better understood by everyone involved. In many cases, conflicts and interpersonal problems arise between family members because the emotional burden is enormous. Nevertheless, these should be avoided under all circumstances so that the remaining life time can be optimized for the patient.

It is advisable to find a harmonious solution when meeting further medical treatment steps. Pursuing one’s own interests can lead to complications and an additional deterioration in health developments. In situations where they are overwhelmed, family members should seek help immediately. Acute health developments can occur at any time, for which everyone involved should be mentally prepared.

Walker-Warburg Syndrome