Zellweger Syndrome

Condition found in childeren

What is this condition ?

Zellweger syndrome is one of a group of four related diseases called peroxisome biogenesis disorders (PBD). The diseases are caused by defects in any one of 13 genes, termed PEX genes, required for the normal formation and function of peroxisomes.

What causes This disoder?

Zellweger spectrum disorders develop due to changes (mutations) of one of 13 different genes involved in the creation and proper function of peroxisomes (peroxisome biogenesis). These mutations are inherited as autosomal recessive traits. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

How can it be prevented?

Zellweger syndrome cannot be prevented. However, genetic counseling is recommended to individuals with family history of the disease. Couples who are carriers of the defective genes should be screened for the disorder before planning to have a child.

Symptoms & Effects

Affects many major systems in the body. Individuals with the syndrome suffer from head and face abnormalities with signs such as enlarged head, high forehead, outer ear deformities, small chin, upslanting eyes and epicanthal folds. Eye abnormalities and vision problems like brushfield spots, abnormal retinal pigmentation, optic disk pallor, glaucoma and cataract occur as well.

How can this condition be detected?

Tests that measure or detect specific substances in blood or urine samples can confirm a diagnosis of Zellweger syndrome.

Treatment options

Zellweger syndrome has no known cure. Treatment options are limited because the damage that occurs in the metabolic and neurological systems occurs in utero. But short-term options that may reduce the onset of complications include being watchful of any infections and using vitamin K to combat any unusual bleeding.