WAGR Syndrome

By | June 10, 2022

The WAGR syndrome refers to the absence of a set of genes on the 11th chromosome. This disorder can lead to a variety of diseases that can include tumors in the kidneys, cancer, eye disease, urogenital problems, mental retardation, and other diseases.

What is WAGR Syndrome?

WAGR syndrome is a rare genetic disorder that can affect both girls and boys. Children born with WAGR syndrome often develop eye problems and are at greater risk of developing certain forms of cancer and intellectual disabilities.

The term WAGR stands for the first letters of the most common physical and mental illnesses that can occur in those affected. These include Wilms tumor (‘W’), the most common form of kidney cancer in children. Also Aniridia (‘A’), the complete absence of the colored part of the eye. For definitions of hypoalbuminemia, please visit lawfaqs.net.

Urogenital problems are also often part of the clinical picture; in English “Genitourinary” (‘G’): this is where the genital organs are misaligned. And the final factor is mental retardation; in English “retardation” (‘R’). Most people with WAGR syndrome have two or more of these manifestations.


WAGR syndrome is caused by a genetic defect. This means it is triggered by the absence of a specific genetic section on the 11th chromosome.

In most cases, such a change on the 11th chromosome occurs during the formation of the sperm or egg cell. However, development during the first few weeks in the womb is also possible.

Rarer is the hereditary transmission of a change between the chromosomes in one of the parents. This leads to a loss of genes when the set of genes is passed on to the child. It is also possible for the child to have a mixture of chromosomes that lack the set of genes and others that are complete.

Symptoms, Ailments & Signs

The genetic WAGR syndrome is characterized by the symptom complex of Wilm’s tumor, aniridia, malformations of the urogenital system and mental retardation. Not all symptoms have to appear at the same time. However, aniridia (absence of the iris) is almost always present. It therefore provides an important indication of the disease.

The absence of the iris can later lead to cataracts ( cataracts ) and other eye diseases. In rare exceptional cases, however, aniridia is not present. Glaucoma ( green star ) is also sometimes observed. Some of those affected also notice drooping eyelids ( ptosis ). Wilm’s tumor is the most common kidney tumor in childhood.

It occurs in about half of patients with WAGR syndrome. Furthermore, up to 40 percent of patients over the age of twelve suffer from kidney failure. The urogenital system is conspicuous by anomalies that appear in the form of intersexual genitals up to undescended testicles. These abnormalities are particularly common in men. They can also be absent in women.

However, women sometimes suffer from a gonadoblastoma (ovarian tumor). The vagina and uterus may be malformed. The mental handicap is different in the individual patients. Some patients also develop extreme obesity as early as childhood. There is no cure for WAGR syndrome. Lifelong symptomatic therapy including regular monitoring of the kidneys for tumors and functional impairments is required. Malformations and tumors must be surgically removed.

Diagnosis & History

Symptoms that indicate WAGR syndrome are usually recognized immediately after birth. A genetic test can then be carried out. One of the most noticeable signs is the absence of eye color in one or both eyes.

The genetic test is called chromosome analysis or karyotype. This analysis specifically searches for the said set of genes on the 11th chromosome. An even more specific test is called FISH for short (fluorescent in situ hybridization) and can look for individual genes. In people or couples who have previously had a child with WAGR syndrome and are therefore at risk, there are opportunities to carry out diagnostic tests much earlier.

It is not certain which of the eponymous diseases the affected child will suffer. There are also people with WAGR syndrome who do not show any of the main symptoms.


The WAGR syndrome leads to a number of different complaints and diseases and can thus also significantly reduce the quality of life of those affected. Patients with this syndrome usually suffer from intellectual disability and various eye disorders. The result is a missing iris in the eye, so that the vision of the person affected is significantly reduced.

There are also deformities and anomalies on the rest of the body, which can make everyday life of the patient significantly more difficult. Many children also suffer from bullying or teasing as a result of the WAGR syndrome and can also suffer from psychological problems or depression. The parents or relatives of the patient often also suffer from severe mental disorders. Furthermore, the WAGR syndrome leads to cataracts and often also to a complete loss of vision in the patient.

Since WAGR syndrome also significantly increases the likelihood of various cancers, those affected are dependent on various treatments and regular examinations. There are no complications. However, a complete cure cannot be achieved in this syndrome. Due to the mental handicap, the patients are always dependent on the help of other people in their lives and cannot cope with everyday life on their own.

When should you go to the doctor?

Since WAGR syndrome cannot heal on its own, the person affected should always consult a doctor. The sooner a doctor is consulted, the better the further course of the disease. If you wish to have children, genetic testing and counseling can also be carried out to prevent the recurrence of WAGR syndrome.

A doctor should be consulted for WAGR syndrome if the person concerned suffers from a missing iris. As a rule, these complaints are directly visible to the eye. Furthermore, various eye problems can also indicate this disease if they occur permanently and do not go away on their own. Likewise, tumors in the eyes often point to this syndrome. Most of those affected also suffer from reduced intelligence and also from severe obesity, which can even occur in children.

Likewise, sexual complaints often point to this disease if they occur in connection with the other complaints. In the case of WAGR syndrome, a general practitioner or a pediatrician can be consulted in the first place, who can diagnose the syndrome. The further treatment then depends on the exact symptoms and their severity.

Treatment & Therapy

The treatment of WAGR syndrome is individual depending on the diseases and disorders that the child develops as a result of the defect. About half of all children with WAGR syndrome develop Wilms’ tumor between the ages of one and three, but it can occur up to the age of eight, and in very rare cases later.

In order to ensure timely treatment, the child is examined by ultrasound every three months up to the age of eight in order to detect the tumor at an early stage. Aniridia can be treated with both drugs and surgery and aims to preserve the child’s vision. In order to prevent urogenital problems, regular examinations of the lumbar region are also carried out, both in boys and girls.

Testicles and ovaries are at risk of developing cancer and may need to be removed. If this is the case, hormone therapy is prescribed. Children’s mental impairment can vary from mild to severe, but in some cases their intelligence remains perfectly normal.


Because WAGR syndrome is a genetic defect, there is no cure or direct prevention. Human genetic counseling by a specialist can help couples who want to have children to assess the risks. Even in the case of a pregnancy that has already occurred, education can help in the decision as to whether a child with WAGR syndrome will be carried to term.


Since the disease is a heavy burden for those affected in everyday life, permanent psychological counseling should be considered. The social environment should be cultivated so that those affected can always ask for help from family members. In order to be able to live with the disease permanently, it is important that emotional stability is guaranteed.

Small joys of life are very important to make life easier for those affected by the disease. Activities that were previously fun for those affected should be planned and carried out again with the social environment. Sufferers should avoid any situation of stress. It is also advisable to join a self-help group. There, those affected can exchange ideas with other sufferers and get to know new ways of living with the disease.

In addition, those affected do not feel left alone with the disease. Those affected should adapt their lifestyle to the disease as much as possible. The profession that is practiced should also be compatible with the illness. Those affected should never exert themselves physically or mentally.

Those affected should also obtain sufficient information from their doctor about the disease and inform themselves independently. In this way, each situation of the disease can be dealt with appropriately. Relatives should also be sufficiently informed in order to be able to deal appropriately with those affected.

You can do that yourself

Dealing with this disease represents a significant challenge for those affected and their relatives. In everyday life, support and cooperation with a psychotherapist should therefore be sought.

There are numerous complaints that are often difficult to process. In order to reduce situations of emotional overstrain to a minimum, cognitive stability is extremely important. Self-confidence needs to be strengthened and should be built up every day through small successes. Humor and joie de vivre are two important components of everyday life. They support further development and have a positive influence in overcoming everyday challenges. The way of life should be adapted to the possibilities of the person concerned. Situations of physical overexertion or mental overstrain are to be avoided as a matter of principle.

In addition, comprehensive information about the disease and all possible symptoms is extremely important. The responsibility for the current level of information lies not only with the treating doctor, but also with the person concerned or their relatives. Doing your own research helps to expand your own knowledge. The knowledge about further events helps to cope with sudden developments and ensures more sovereignty in these cases. In this way, situations of fear or panic can be better managed.

WAGR Syndrome