Zellweger Syndrome: Zellweger syndrome is a rare hereditary disorder affecting infants, and usually results in death. (Source: Genes and Disease by the National Center for Biotechnology) ... more about Zellweger Syndrome.
Zellweger Syndrome: Zellweger spectrum disorders are a group of rare, genetic, multisystem disorders that were once thought to be separate entities. These disorders are now classified as different expressions (variants) of one disease process. Collectively, they form a spectrum or continuum of disease. Zellweger syndrome is the most severe form; neonatal adrenoleukodystrophy is the intermediate form; and infantile Refsum disease is the mildest form. More detailed information about the symptoms, causes, and treatments of Zellweger Syndrome is available below.
See full list of 82 symptoms of Zellweger Syndrome
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See full list of 11 occasional symptoms of Zellweger Syndrome
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Prognosis for Zellweger Syndrome: Poor. Death common within 6 months.
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Zellweger syndrome is a rare hereditary disorder affecting infants, and usually results in death. (Source: Genes and Disease by the National Center for Biotechnology)
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. (Source: excerpt from NINDS Zellweger Syndrome Information Page: NINDS)
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. - (Source - Diseases Database)
Zellweger Syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Zellweger Syndrome, or a subtype of Zellweger Syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Zellweger Syndrome as a "rare disease".
Source - Orphanet
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