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Other Names for this Disease
- Cerebrohepatorenal syndrome
- Zellweger leukodystrophy
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The signs and symptoms of Zellweger syndrome typically become apparent within the first few hours or days of life. Affected newborns often have poor muscle tone (hypotonia); seizures; feeding difficulties; liver cysts with liver dysfunction; vision loss; hearing loss; and distinctive facial characteristics including a flattened face, broad nasal bridge, high forehead, upslanting palpebral fissures, epicanthal folds and other features. Some individuals have an abnormally small or large head size (microcephaly or macrocephaly); protruding tongue; neck skin folds; cataracts; glaucoma; nystagmus; and/or other findings. Many affected infants have skeletal abnormalities, which may include a large space between the bones of the skull and bone spots known as chondrodysplasia punctata that can be seen with an X-ray. The function of the central nervous system is typically severely affected. Children with Zellweger syndrome also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys.
Last updated: 12/29/2011
- Steven J Steinberg, Gerald V Raymond, Nancy E Braverman, Ann B Moser. Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum. GeneReviews. January 18, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1448/. Accessed 12/29/2011.
- Zellweger spectrum. Genetics Home Reference. April 2010; http://ghr.nlm.nih.gov/condition/zellweger-spectrum. Accessed 12/29/2011.
- Zellweger syndrome. Orphanet. January 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=912. Accessed 12/29/2011.