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Diseases » Zellweger Syndrome » Summary

What is Zellweger Syndrome?

What is 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.
  • Zellweger Syndrome: 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

Zellweger Syndrome: Introduction

Types of Zellweger Syndrome:

Broader types of Zellweger Syndrome:

How many people get Zellweger Syndrome?

Prevalance of Zellweger Syndrome: rare

How serious is Zellweger Syndrome?

Prognosis of Zellweger Syndrome: Poor. Death common within 6 months.
Complications of Zellweger Syndrome: see complications of Zellweger Syndrome
Prognosis of 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) ... The prognosis for individuals with Zellweger syndrome is poor. Death usually occurs within 6 months after onset, and may be caused by respiratory distress, gastrointestinal bleeding, or liver failure. (Source: excerpt from NINDS Zellweger Syndrome Information Page: NINDS)

What causes Zellweger Syndrome?

Causes of Zellweger Syndrome: see causes of Zellweger Syndrome
Cause of Zellweger Syndrome: Absence or reduction in peroxisomes.

What are the symptoms of Zellweger Syndrome?

Symptoms of Zellweger Syndrome: see symptoms of Zellweger Syndrome

Complications of Zellweger Syndrome: see complications of Zellweger Syndrome

Can anyone else get Zellweger Syndrome?

Inheritance: see inheritance of Zellweger Syndrome

Zellweger Syndrome: Testing

Diagnostic testing: see tests for Zellweger Syndrome.

Misdiagnosis: see misdiagnosis and Zellweger Syndrome.

How is it treated?

Doctors and Medical Specialists for Zellweger Syndrome: Medical Geneticist ; see also doctors and medical specialists for Zellweger Syndrome.
Treatments for Zellweger Syndrome: see treatments for Zellweger Syndrome
Research for Zellweger Syndrome: see research for Zellweger Syndrome

Organs Affected by Zellweger Syndrome:

Organs and body systems related to Zellweger Syndrome include:

Name and Aliases of Zellweger Syndrome

Main name of condition: Zellweger Syndrome

Class of Condition for Zellweger Syndrome: congen.defect

Other names or spellings for Zellweger Syndrome:

Cerebrohepatorenal syndrome, CHR, ZWS, ZS, Zellweger leukodystrophy, peroxisome biogenesis disorders

Cerebrohepatorenal syndrome Source - Diseases Database

CHR, Cerebrohepatorenal syndrome, ZS, ZWS, Zellweger leukodystrophy
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Zellweger Syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Zellweger Syndrome:


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