Zellweger Syndrome – Pictures, Symptoms, Treatment

What is Zellweger Syndrome?

Zellweger Syndrome is one of the fatal diseases that are clubbed together in peroxisome biogenesis disorders. The disease is a form genetic disorder and affects the cell structure. The Zellweger Syndrome is the most severe form of the disease, which shows operlapping features.

The Syndrome generally takes place at the featus level and the person hardly any gets a chance of survival. The disease is considered as one of the most severe of complexities and fatal as well. Critical organs of the body including the brain, eyes, liver, kidney and cardiovascular system get affected by the disease.

what is Zellweger syndrome

Picture 1 – What is Zellweger Syndrome


The cause of the Zellweger Syndrome is highly complicated and generic. The defects in the gene lead to the syndrome that has drastic impact on the human biological system.

There are 13 genes that are responsible for the formation and function of the Peroxisomes. These are called Peroxisome genes. Any defect in the 13 genes leads to the abnormality of the formation and function of the Peroxisomes.

Peroxisomes are very critical for the human health. These are basically cell structures that are responsible for breaking down toxic substances and synthesize lipids. A prime example of such substances is Fatty Acids, Oils and Waxes. However, the impact of the Peroxisomes can be felt in other parts of the body as well. It is very much required for the Brain Development and Myelin formation which coats the nerve fiber. Apart from it Peroxisomes are equally important for Eye, Kidney, Liver and Bone functions.

The defect of the gene or genes basically disrupt all the functions and the syndrome collectively called as the Zellweger Syndrome. There are three stages of the Peroxisome disease. Neonatal adrenoleukodystrophy,  Infantile Refsum disease and ZellwegerSyndrome. The first two are not severe and Refsm Disease being the least severe. But the criticality and severity of the Zellweger Syndrome is most vital.

Zellweger Syndrome Pathogenesis

Picture 2 – Zellweger syndrome pathogenesis


The symptoms of the Zellweger Syndrome can be observed from the early stage of human life. The symptoms are very much required for the further course of actions in case of Zellweger Syndrome.

The most common symptom for the Zellweger Syndrome is the enlarged liver of the patient.

In terms of observable symptoms, facial features play a crucial role. The abnormal facial features like broad forehead underdeveloped eyebrow ridges, and broad set of eyes are very much visible.

The infants are born with the dangerous Zellweger Syndrome show multiple symptoms. The infants may born with Jaundice and Gastrointestinal bleeding may also been observed among the infants. Apart from it, muscle tone remain missing due to lack of bone function and formation. Situation can be very critical and child may not be able to walk, swallow or suck due to that. Glaucoma and RetinalDegenration can also be observed among the infants born with Zellweger Syndrome.

Neurological disorders can also be observed among the infants. Mental Disorders, Seizures and lack brain functions can also be observed.

The infant may born with very less weight. Apart from it, the hearing impairment can also be observed among the sufferrer. However, the impact varies from mild impairment to total deafness.

Apart from it many other symptoms are observed, like Pachymicrogyria, Heterotopias, Subependymalcysts , Postnatal growth deficiency, Elevated copper, Vision disturbances and others.

Zellweger syndrome face

Picture 3 – Face of Zellweger syndrome


Treatments for Zellweger Syndrome are not well defined. Generally no cure is available fromZellweger Syndrome as of now in Medical Science. Doctors and Medical Experts continue to test various methods for treating the syndrome. However all radical treatments have failed so far. The treatment available for the disease is generally supportive in nature rather than any permanent solution. The supportive treatment generally varies with the symptoms and impact on the body.

The Zellweger Syndrome takes place in feautus. The treatment course or medical assistance is hardly available after birth. If the prognosis of the infant is considered, then the life expectancy is really very less. Most of the infants born with Zellweger Syndrome die within six months.

zellweger syndrome imaging

Picture 4 – Zellweger syndrome imaging

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