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Genetic and Rare Diseases Information Center (GARD)

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Zellweger syndrome

Other Names for this Disease
  • Cerebrohepatorenal syndrome
  • CHR
  • Zellweger leukodystrophy
  • ZS
  • ZWS
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What are the signs and symptoms of Zellweger syndrome?

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.[1][2][3] 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.[3] 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.[2] The function of the central nervous system is typically severely affected.[3] Children with Zellweger syndrome also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys.[2]
Last updated: 12/29/2011

  1. Steven J Steinberg, Gerald V Raymond, Nancy E Braverman, Ann B Moser. Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum. GeneReviews. January 18, 2011; Accessed 12/29/2011.
  2. Zellweger spectrum. Genetics Home Reference. April 2010; Accessed 12/29/2011.
  3. Zellweger syndrome. Orphanet. January 2008; Accessed 12/29/2011.