Zellweger Syndrome

Overview

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Is a:

Disease or Syndrome
Congenital Abnormality

Definition:

An autosomal recessive disorder due to defects in peroxisome biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; muscle hypotonia; sensorineural hearing loss; visual compromise; seizures; progressive degeneration of the kidneys and the liver. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.

Synonyms:

Cerebro Hepato Renal Syndrome
Cerebro-Hepato-Renal Syndrome
Cerebro-Hepato-Renal Syndromes
Cerebrohepatorenal Syndrome
Cerebrohepatorenal Syndromes
Zellweger Disease
Zellweger Like Syndrome
Zellweger's Syndrome
Zellweger-Like Syndrome
Zellwegers Syndrome

Broader Topics:

Narrower Topics:

None

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