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

• Enlarged liver
• Elevated iron
• Elevated copper
• Vision disturbances
• Prenatal growth failure
• more symptoms...»

See full list of 87 symptoms of Zellweger Syndrome

Home Diagnostic Testing

Home medical testing related to Zellweger Syndrome:

• Bladder & Urinary Health: Home Testing:
  • Home Bladder Testing
  • Home Urinary Tract Infection Tests
  • Home Cystitis Tests
  • Home Kidney Tests
  • Home Urine Protein Tests (Kidney Function)
  • Home Prostate Cancer Tests
• Liver Health & Hepatitis: Home Testing
  • Home Hepatitis Tests
  • Home Liver Tests
  • Sexually Transmitted Disease Tests
• Kidney Health: Home Testing:
  • Home Kidney Testing
  • Home Microalbumin Tests (Kidney)
  • Home Urine Protein Tests (Kidney)
  • Home Urinary Tract Infection Test Kits
• Brain & Neurological Disorders: Related Home Testing:
  • ADHD -- Home Tests
  • Drug Screening Kits
• more tests...»

Zellweger Syndrome: Complications

Review possible medical complications related to Zellweger Syndrome:

• Death #usually within first year
• more complications...»

Medical Textbooks Online about Zellweger Syndrome

Book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.

Less Common Symptoms of Zellweger Syndrome

• Prenatal growth deficiency
• Glaucoma
• Nystagmus
• Cubitus valgus
• Ulnar deviation of hands
• more symptoms...»

See full list of 11 occasional symptoms of Zellweger Syndrome

Wrongly Diagnosed with Zellweger Syndrome?

• Misdiagnosis of Zellweger Syndrome
• Failure to diagnose Zellweger Syndrome
• Hidden causes of Zellweger Syndrome (possibly wrongly diagnosed)
• Undiagnosed: Zellweger Syndrome

Zellweger Syndrome: Self Assessment Tools

• Stroke -- Self Assessment Tools
• more tools...»

Zellweger Syndrome: Marketplace Products, Discounts & Offers

Products, offers and promotion categories available for Zellweger Syndrome:

• Urinary Care & Incontinence
• Stroke
• Brain
• more product offers...»

Zellweger Syndrome: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

• Brain & Neurological Disorders: Undiagnosed:
  • Adult ADHD -- Undiagnosed - ADHD can be undiagnosed in adults.
  • ADHD -- Undiagnosed
  • Alzheimer Disease -- Undiagnosed
  • Migraine -- Undiagnosed
  • Concentration Disorders -- Undiagnosed
  • Stroke -- Undiagnosed
  • Bipolar Disorder -- Undiagnosed
  • Schizophrenia -- Undiagnosed
  • Epilepsy -- Undiagnosed
• more undiagnosed conditions...»

Misdiagnosis and Zellweger Syndrome

Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who had been institutionalized and treated for mental illness because he suffered from sudden...read 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...read 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...read 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...read 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's disease or dementia (such as Alzheimer's...read 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...read more »

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

Read more about Misdiagnosis and Zellweger Syndrome

Zellweger Syndrome: Research Doctors & Specialists

Research related physicians and medical specialists:

• Neurology (Brain/CNS Specialists):
  • Neurology (Brain/CNS Specialists)
  • Pediatric Neurology (Child Brain Specialist)
  • Pediatric Neurosurgery (Child Neurosurgeon)
  • Clinical Neurophysiology
  • Neurodevelopment Disabilities
  • Neurosurgery (Brain Surgery)
  • Neuromusculoskeletal Medicine (Nerve/Muscle/Bone Specialists)
  • Neuroradiology
  • Vascular Neurology
  • Neuropathology
  • Otology / Neurotology (Ear/Hearing Specialists)
• Stroke & Vascular Specialists:
  • Vascular Neurology (Brain Blood Vessels)
  • Vascular & Interventional Radiology
  • Vascular Surgery (Blood Vessel Surgeon)
  • Neuropathology (Brain Diagnostics)
• Urinary & Bladder Specialists (Urology):
  • Urology (Urinary Specialists)
  • Urological Surgery (Urinary Surgeons)
• more specialists...»

Other doctor, physician and specialist research services:

• Rate Your Doctor Online
• Research Your Doctor Online
• Review Patient Surveys About Your Doctor
• Research local specialists including ratings, affiliations, and sanctions.

Hospitals & Clinics: Zellweger Syndrome

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

• Kidney Dialysis Centers -- Hospital Quality Ratings
• Kidney Doctors (Nephrologists) -- Ratings and Reports
• Kidney Health (Nephrology) -- Hospital Quality Ratings
• Urinary Health (Urology) -- Hospital Quality Ratings
• more hospital ratings...»

Hospital & Clinic quality ratings » »

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

• 50 Best Hospitals Report
• Outstanding Patient Experinece Award Winning Hospitals
• Women's Health Best Hospitals
• Patient Safety
• Hospital Quality and Clinical Excellence Study (2009)

Zellweger Syndrome: Rare Types

Rare types of diseases and disorders in related medical categories:

• Brain & Neurological Disorders: Rare Types:
  • Adult ADHD -- Rare Types
  • ADHD -- Rare Types
  • Alzheimer Disease -- Rare Types
  • Migraine -- Rare Types
  • Concentration Disorders -- Rare Types
  • Stroke -- Rare Types
  • Bipolar Disorder -- Rare Types
  • Schizophrenia -- Rare Types
  • Epilepsy -- Rare Types
• more rare diseases...»

Causes of Zellweger Syndrome

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

Read more about causes of Zellweger Syndrome

More information about causes of Zellweger Syndrome:

• Underlying causes of Zellweger Syndrome

Treatments for Zellweger Syndrome

• Radical treatments of most peroxisomal disorders have been unsuccessful
• more treatments...»

Read more about treatments for Zellweger Syndrome

Evidence Based Medicine Research for Zellweger Syndrome

Medical research articles related to Zellweger Syndrome include:

• Prenatal Screening for Fetal Aneuploidy
• Retinitis Pigmentosa (Overview)
• Arthrogryposis (Diagnosis)
• Retinitis Pigmentosa (Diagnosis)
• Peroxisomal Disorders (Diagnosis)
• Peroxisomal Disorders (Follow-up)
• Cystic Diseases of the Kidney (Overview)
• Benign Congenital Hypotonia
• more research...»

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

Videos for Zellweger Syndrome

Patient Surveys for Zellweger Syndrome

• Patient Profile Survey
  Take Survey  View Results
• Survey about the symptoms of your Zellweger Syndrome
  Take Survey  View Results

Prognosis for Zellweger Syndrome

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

More about prognosis of Zellweger Syndrome

Reseach about Zellweger Syndrome

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

Clinical Trials for Zellweger Syndrome

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

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

• Study of Bile Acids in Patients With Peroxisomal Disorders - This study is not yet open for patient recruitment (Current: 23 Nov 2006) - chenodeoxycholic acid,cholic acid,ursodiol
• Study of Oral Cholic Acid in Patients With Inborn Errors of Bile Acid Synthesis - This study has been completed (Current: 23 Nov 2006)
• more trials...»

Read more about Clinical Trials for Zellweger Syndrome

Statistics for Zellweger Syndrome

• Medical statistics for Zellweger Syndrome
• Prevalence and incidence statistics for Zellweger Syndrome
• Death and Mortality statistics for Zellweger Syndrome
• Society statistics for Zellweger Syndrome

Zellweger Syndrome: Broader Related Topics

• Congenital conditions
• Peroxisomal diseases
• Kidney conditions
• Liver conditions
• more types...»

Types of Zellweger Syndrome

Stories from Users Related to Zellweger Syndrome

• Leukodystrophy
• zellweger syndrome

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User Interactive Forums

Read about other experiences, ask a question about Zellweger Syndrome, or answer someone else's question, on our message boards:

• I can not get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for this?
• See all the forums.

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