Zellweger Syndrome Information Page - Article Alagille Syndrome; Arteriohepatic Dysplasia; Bile ducts paucity, syndromic form; Jaundice; Liver; Liver Diseases; Liver Diseases (General)
Article: Zellweger Syndrome Information Page
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 covering-which acts as an insulator-on 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?
What is the prognosis?
What research is being done?
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, DHHS
31 Center Drive, Rm. 2A32 MSC 2425
Bethesda, MD 20892-2425
|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)
|United Leukodystrophy Foundation |
2304 Highland Drive
Sycamore, IL 60178
Tel: 815-895-3211 800-728-5483
Source: National Institute of Neurological Disorders and Stroke
Cache Date: December 16, 2004