What is Zellweger Syndrome?
Zellweger syndrome is a rare, congenital (present at birth) disorder characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain. Zellweger syndrome is one of a group of genetic disorders called peroxisomal diseases that affect brain development and the growth of the myelin sheath, the fatty coveringwhich acts as an insulatoron nerve fibers in the brain. The most common features of Zellweger syndrome include an enlarged liver, high levels of iron and copper in the blood, and vision disturbances. Some affected infants may show prenatal growth failure. Symptoms at birth may include lack of muscle tone and an inability to move. Other symptoms may include unusual facial characteristics, mental retardation, seizures, and an inability to suck and/or swallow. Jaundice and gastrointestinal bleeding may also occur.
Is there any treatment?
There is no cure for Zellweger syndrome, nor is there a standard course of treatment. Infections should be guarded against to prevent such complications as pneumonia and respiratory distress. Other treatment is symptomatic and supportive.
What is the prognosis?
The prognosis for individuals with Zellweger syndrome is poor. Death usually occurs within 6 months after onset, and may be caused by respiratory distress, gastrointestinal bleeding, or liver failure.
What research is being done?
The NINDS supports research on genetic disorders including leukodystrophies such as Zellweger syndrome. The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and cure them.
Select this link to view a list of studies currently seeking patients.
National Institute of Child Health and Human Development (NICHD)
National Institutes of Health
Bldg. 31, Rm. 2A32
Bethesda, MD 20892-2425
Tel: 301-496-5133 800-370-2943
National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)