Zellweger syndrome
Other Resources UpToDate PubMed

Zellweger syndrome

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Other Resources UpToDate PubMed


A spectrum of rare autosomal-recessive inherited metabolic disorders of peroxisomal biogenesis caused by defects in PEX genes. Characteristic features are liver dysfunction, craniofacial dysmorphisms, hypotonia, vision and hearing loss, seizures, and brain abnormalities. Onset in neonates, with numerous malformations present at birth, while other abnormalities occur progressively.
Prognosis is poor for children at the most severe end of the spectrum, who usually die within a year (patients who develop liver disease or leukodystrophy). Milder cases may experience slower progression and have a longer life expectancy, but it is not often predictable.

Zellweger spectrum disorders lack a curative therapy; however, supportive therapeutic options are available.

For more information, see OMIM.


E71.510 – Zellweger syndrome

88469006 – Zellweger syndrome


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Last Updated: 03/29/2017
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Zellweger syndrome
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Zellweger syndrome : Seizures, Failure to thrive, Hearing loss, Hypotonia, Present at birth, Vision loss
Copyright © 2019 VisualDx®. All rights reserved.