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Zellweger Syndrome

Zellweger Syndrome: Introduction

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.

Symptoms of Zellweger Syndrome

Treatments for Zellweger Syndrome

Home Diagnostic Testing

Home medical testing related to Zellweger Syndrome:

Wrongly Diagnosed with Zellweger Syndrome?

Zellweger Syndrome: Related Patient Stories

Zellweger Syndrome: Complications

Review possible medical complications related to Zellweger Syndrome:

Causes of Zellweger Syndrome

  • Zellweger spectrum disorders are inherited as autosomal recessive traits
  • more causes...»

More information about causes of Zellweger Syndrome:

Disease Topics Related To Zellweger Syndrome

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

Less Common Symptoms of Zellweger Syndrome

Zellweger Syndrome: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Zellweger Syndrome

Chronic digestive conditions often misdiagnosed: When diagnosing chronic symptoms of the digestive tract, there are a variety of conditions that may be misdiagnosed. more »

Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who had been institutionalized and treated for mental more »

Intestinal bacteria disorder may be hidden cause: One of the lesser known causes of diarrhea is an imbalance of bacterial in the gut, sometimes called intestinal imbalance. The digestive system contains a variety of "good" more »

Antibiotics often causes diarrhea: The use of antibiotics are very likely to cause some level of diarrhea in patients. The reason is that antibiotics kill off not only "bad" bacteria, but can also kill the "good" bacteria in the more »

Food poisoning may actually be an infectious disease: Many people who come down with "stomach symptoms" like diarrhea assume that it's "something I ate" more »

Dementia may be a drug interaction: A common scenario in aged care is for a patient to show mental decline to dementia. Whereas this can, of course, occur due to various medical conditions, such as a stroke or Alzheimer' more »

Mesenteric adenitis misdiagnosed as appendicitis in children: Because appendicitis is one of the more feared conditions for a child with abdominal pain, it can be over-diagnosed (it can, of course, also fail to be diagnosed more »

Mild traumatic brain injury often remains undiagnosed: Although the symptoms of severe brain injury are hard to miss, it is less clear for milder injuries, or even those causing a mild concussion diagnosis. The condition goes by the name more »

MTBI misdiagnosed as balance problem: When a person has symptoms such as vertigo or dizziness, a diagnosis of brain injury may go overlooked. This is particularly true of mild traumatic brain injury (MTBI), for which more »

Brain pressure condition often misdiagnosed as dementia: A condition that results from an excessive pressure of CSF within the brain is often misdiagnosed. It may be misdiagnosed as Parkinson' more »

Celiac disease often fails to be diagnosed cause of chronic digestive symptoms: One of the most common chronic digestive conditions is celiac disease, a malabsorption disorder with a variety of symptoms more »

Post-concussive brain injury often misdiagnosed: A study found that soldiers who had suffered a concussive injury in battle often were misdiagnosed on their return. A variety of symptoms can occur in post-concussion syndrome and more »

Chronic liver disease often undiagnosed: One study reported that 50% of patients with a chronic liver disease remain undiagnosed by their primary physician. The reasons are more »

Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the typical migraine sufferers, but migraines can also occur in children. See more »

Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms more »

Chronic digestive diseases hard to diagnose: There is an inherent difficulty in diagnosing the various types of chronic digestive diseases. Some of the better known possibilities are peptic ulcer, colon cancer, irritable bowel more »

Zellweger Syndrome: Research Doctors & Specialists

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Hospitals & Clinics: Zellweger Syndrome

Research quality ratings and patient safety measures for medical facilities in specialties related to Zellweger Syndrome:

Choosing the Best Hospital: More general information, not necessarily in relation to Zellweger Syndrome, on hospital performance and surgical care quality:

Zellweger Syndrome: Rare Types

Rare types of diseases and disorders in related medical categories:

Evidence Based Medicine Research for Zellweger Syndrome

Medical research articles related to Zellweger Syndrome include:

Click here to find more evidence-based articles on the TRIP Database

Zellweger Syndrome: Animations

Prognosis for Zellweger Syndrome

Prognosis for Zellweger Syndrome: Poor. Death common within 6 months.

Research about Zellweger Syndrome

Visit our research pages for current research about Zellweger Syndrome treatments.

Clinical Trials for Zellweger Syndrome

The US based website lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on for Zellweger Syndrome include:

Statistics for Zellweger Syndrome

Zellweger Syndrome: Broader Related Topics

Zellweger Syndrome Message Boards

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User Interactive Forums

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Article Excerpts about Zellweger Syndrome

Genes and Disease by the National Center for Biotechnology (Excerpt)

Zellweger syndrome is a rare hereditary disorder affecting infants, and usually results in death. (Source: Genes and Disease by the National Center for Biotechnology)

NINDS Zellweger Syndrome Information Page: NINDS (Excerpt)

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)

Definitions of 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


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