Zellweger Syndrome

By | June 10, 2022

Zellweger syndrome is the medical term for a genetically determined and fatal metabolic disease. This is shown by the absence of peroxisomes and can be characterized by them. The syndrome is congenital through a gene mutation and can be inherited in families.

What is Zellweger Syndrome?

Zellweger syndrome is a relatively rare hereditary disease. It is characterized by the absence of peroxisomes (organelles in eukaryotic cells, they are often called microbodies) and is diagnosed in about one in 100,000 babies on average.

Since 1964, over 100 cases have been documented, some of which also affected siblings. In 1964 the disease was described by the American doctor Hans Ulrich Zellweger, after whom the syndrome was named. He had diagnosed the genetic defect in twins. For meanings of hypotrichosis with juvenile macular dystrophy, please visit polyhobbies.com.


The syndrome is characterized primarily by the absence of peroxisomes or by a disrupted peroxisomal gene structure (called biogenesis). This is due to congenital and often inherited gene mutations. The genes that are primarily responsible for the development of peroxisomes are usually affected.

Various biochemical reactions take place in the peroxisomes that are directly or indirectly related to the breakdown and formation of various endogenous substances such as fatty and bile acids. However, it is still unclear what role peroxisomes play in the body as an essential substance and what exactly causes their failure or disruption in Zellweger syndrome.

In Zellweger syndrome, the gene disorders or the absence of peroxisomes are often accompanied by the loss of certain liver, kidney and other organ functions. Inactive peroxisomal enzymes can also occur, which can affect different metabolic functions of the body in different ways, depending on the severity. Accordingly, the present “cause” may show up through various symptoms, which in turn cause other complaints. In addition, Zellweger syndrome has been researched into two types today, actual Zellweger syndrome and what is known as pseudo-Zellweger syndrome. The latter is when the peroxisomal enzymes are inactive.

Symptoms, Ailments & Signs

Zellweger syndrome manifests itself in a variety of peculiarities throughout the newborn’s body. For example, there is often a vertical malformation or overdevelopment of the head (known as a long skull), a less pronounced bridge of the nose, a face that appears flat and rectangular, a relatively large distance between the eyes (called hypertelorism), and clouding of the cornea and lens.

There are also cysts in the brain, underdevelopment of the lungs and severe cognitive disabilities, severe psychomotor development delays and defective development of the external genitalia in girls.

In addition, Zellweger syndrome often manifests itself through high-pitched crying, a lack of reflexes, epilepsy, difficult breathing and short stature. In addition, affected children are usually born prematurely and therefore well before the calculated due date.

However, the list of symptoms, complaints and signs associated with Zellweger syndrome does not end there. Because the symptoms, signs and peculiarities can occur in a wide variety of forms and combinations. For this reason, even today, the syndrome is not always correctly diagnosed immediately.

Diagnosis & course of disease

Zellweger syndrome is diagnosed in most babies by the clearly visible signs on the face or by cysts in the brain. However, the syndrome can also be diagnosed by detecting changes in the body’s own fatty acids. In a culture of fibroblasts and hepatocytes, the absence of peroxisomes can also be determined and thus also detected.

Finally, the diagnosis should be secured by identifying the genetic mutation due to the numerous symptoms, signs and symptoms that often occur in very different combinations with each other.

The syndrome cannot always be diagnosed directly and, due to the large number of different symptoms, signs and symptoms, it can easily be confused with other hereditary diseases, diseases and gene mutations. It is therefore still possible today that the syndrome is not recognized as such at all or only later.

In addition, the course of the disease always varies depending on the severity of the syndrome. The most important thing here is which parts of the body, organs and bodily functions are affected and to what extent. Even today, children suffering from the syndrome are not considered viable and die within the first few months after birth.


Zellweger syndrome is a serious disease that can cause various complications as it progresses. Characteristic disorders such as opacity of the cornea and lens result in visual disturbances and can lead to partial or total blindness in the later stages. Underdeveloped lungs are associated with reduced performance.

It can also lead to breathing difficulties and an insufficient supply of oxygen to the brain. The typical cognitive disabilities and psychomotor development delays often also have psychological effects. This affects not only the sick, but also their relatives, who usually suffer greatly from the stress and the poor general condition of the person concerned. Other complications that can occur are epilepsy and neurological disorders, both of which are associated with the risk of accidents.

Zellweger syndrome is almost always fatal because no effective treatment options exist to date. Although the individual symptoms and complaints can be treated, this also involves risks. Since those affected are almost always infants and small children, even marginal errors in surgical interventions or medication can have serious health consequences.

When should you go to the doctor?

Since the disease is hereditary, if the disorder runs in the family, contact with a doctor should be established before planning offspring. Although the syndrome is very rare, it can be passed on to offspring. If a diagnosis has already been made within the family, a doctor should be consulted at an early stage.

If parents have no knowledge of a genetic disposition within the family, optical abnormalities often appear in the child immediately after birth. In addition, premature birth is often recorded. Normally, the birth is accompanied by an obstetric team or a doctor. In a routine process, they carry out the initial examinations of the baby. The optical abnormalities in the area of ​​the face are therefore noticed by them immediately after the birth. Further investigations will be initiated to clarify the cause.

If, in rare cases, no diagnosis is made during infancy, parents should consult a doctor as soon as their offspring show developmental delays. In the case of seizures, behavioral disorders in the child or visual abnormalities in the growth process, a doctor’s visit is necessary. A clouding of the cornea, disturbances in breathing and special features of memory are further signs of health impairment. Medical examinations are necessary so that the first treatment steps can be initiated at an early stage.

Treatment & Therapy

Despite the latest research, it is still not possible to cure the syndrome because there are no treatment and therapy options. Only certain complaints and symptoms can be treated, so they may be reduced. However, this is also not the case across the board. Children with Zellweger syndrome are not considered viable in the long term, since the syndrome is always lethal (deadly) according to current knowledge. All children known to date died within the first months of life.


Since Zellweger syndrome is a congenital genetic mutation, it cannot be prevented. However, certain symptoms and signs can now be diagnosed in the womb using various examination methods. This often makes sense, for example, or is the case when an affected couple has already given birth to an infant with the genetic disorder. However, even today, not all combinations of the gene disorder can be correctly diagnosed in advance.


In most cases, those affected with Zellweger syndrome have only very few and only very limited measures of direct aftercare available. Therefore, those affected by this disease should consult a doctor at an early stage and have treatment initiated so that there are no further symptoms or complications. An early diagnosis usually has a very positive effect on the further course of the disease.

Since this is a genetic disease, it cannot be cured in most cases. Therefore, if the person concerned wishes to have children, a genetic test is advisable in the first place to determine the possibility of a recurrence of Zellweger syndrome in the descendants.

Furthermore, in many cases the care and support of one’s own family is very important. This can also prevent the development of depression and other mental disorders. The parents are often dependent on psychological treatment because the children usually die quickly. Contact with other people affected by Zellweger syndrome can be very useful, as this leads to an exchange of information.

You can do that yourself

Zellweger syndrome is usually fatal for the sick child. The most important self-help measure is dealing openly with the disease.

It is important to use the time available with the child. It is usually possible for the close relatives to spend the time after the birth in the hospital. Special mother-child rooms are available in most specialist clinics and are a good opportunity for the parents to spend time with the sick child. Parents should seek trauma therapy at an early stage or consult a self-help group in consultation with the doctor.

In addition, it is important to make the preparations for the death of the child and, for example, to organize a baptism or the funeral. The doctor in charge will help with this.

Zellweger syndrome is an extremely rare condition, which is why the disease can usually only be dealt with in internet forums or a few self-help groups. The relatives should also look at specialist literature and visit a specialist center for metabolic disorders. Discussions with specialists help to understand the rare syndrome and thereby process the child’s illness.

Zellweger Syndrome