Learn About Zellweger Syndrome

What is the definition of Zellweger Syndrome?
Zellweger syndrome is the most severe form of a spectrum of conditions called Zellweger spectrum. The signs and symptoms of Zellweger syndrome typically appear during the newborn period and may include poor muscle tone (hypotonia), poor feeding, seizures, hearing loss, vision loss, distinctive facial features, and skeletal abnormalities. Affected children also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys. Children with Zellweger syndrome usually do not survive beyond the first year of life. Zellweger syndrome is caused by mutations in any one of at least 12 genes; mutations in the PEX1 gene are the most common cause. It is inherited in an autosomal recessive manner. There is no cure for Zellweger syndrome; treatment is generally symptomatic and supportive.
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What are the alternative names for Zellweger Syndrome?
  • Cerebrohepatorenal syndrome
  • CHR
  • ZWS
  • ZS
  • Zellweger leukodystrophy
What are the causes of Zellweger Syndrome?
Zellweger syndrome is an autosomal recessive condition caused by changes (mutations) in any one of at least 12 different genes that are involved in the creation and proper function of peroxisomes. Peroxisomes are structures in cells that are involved in many chemical processes needed for the body to function properly. They are vital for the proper breakdown of fatty acids and the production of certain lipids (fats) that are important to the nervous system and digestion. They are also play a role in waste disposal and help with the development and function of the brain. Mutations in the genes responsible for Zellweger syndrome cause dysfunction of peroxisomes, which leads to the signs and symptoms of the condition. Almost 70% of individuals with a Zellweger spectrum disorder have a mutation in the PEX1 gene. The other genes associated with the Zellweger spectrum each account for a smaller percentage of cases. To see a list of the genes associated with Zellweger syndrome click here.
What are the symptoms of Zellweger Syndrome?
The signs and symptoms of Zellweger syndrome typically become apparent within the first few hours or days of life. Affected newborns often have poor muscle tone (hypotonia); seizures; feeding difficulties; liver cysts with liver dysfunction; vision loss; hearing loss; and distinctive facial characteristics including a flattened face, broad nasal bridge, high forehead, upslanting palpebral fissures, and epicanthal folds. Some people also have an abnormally small or large head size (microcephaly or macrocephaly, respectively); protruding tongue; neck skin folds; cataracts; glaucoma; and/or nystagmus. Many affected infants have skeletal abnormalities, which may include a large space between the bones of the skull and bone spots known as chondrodysplasia punctata that can be seen with an X-ray. The function of the central nervous system (brain and spinal cord) is typically severely affected. Children with Zellweger syndrome also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys.
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What are the current treatments for Zellweger Syndrome?
There is currently no cure or effective treatment for Zellweger syndrome. Management is supportive and based on the signs and symptoms present in each person. For example, infants with feeding issues may require placement of a feeding tube to ensure proper intake of calories. Care is usually handled by a team of specialists that may include pediatricians, neurologists, surgeons, audiologists (treat hearing problems), ophthalmologists (treat vision problems), and orthopedists (treat skeletal abnormalities).
Who are the top Zellweger Syndrome Local Doctors?
NB
Dr. Nancy E. Braverman
Medical Genetics | Pediatrics
Elite
Highly rated in
16
conditions
Medical Genetics
Pediatrics

Baltimore, MD 

Nancy Braverman is a Medical Genetics specialist and a Pediatrics doctor in Baltimore, Maryland. Dr. Braverman is rated as an Elite doctor by MediFind in the treatment of Zellweger Syndrome. She is also highly rated in 16 other conditions, according to our data. Her top areas of expertise are Zellweger Syndrome, Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, and Rhizomelic Syndrome. She is licensed to treat patients in Maryland. Dr. Braverman is currently accepting new patients.

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RW
Ronald A. Wanders
Elite
Highly rated in
39
conditions

University Of Amsterdam

Amsterdam, NH, NL 

Ronald Wanders is in Amsterdam, Netherlands. Wanders is rated as an Elite expert by MediFind in the treatment of Zellweger Syndrome. He is also highly rated in 39 other conditions, according to our data. His top areas of expertise are Refsum Disease, Adrenoleukodystrophy, Zellweger Syndrome, and Pseudoneonatal Adrenoleukodystrophy.

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FK
Femke C. Klouwer
Elite
Highly rated in
4
conditions

University Of Amsterdam

Amsterdam, NH, NL 

Femke Klouwer is in Amsterdam, Netherlands. Klouwer is rated as an Elite expert by MediFind in the treatment of Zellweger Syndrome. She is also highly rated in 4 other conditions, according to our data. Her top areas of expertise are Zellweger Syndrome, Refsum Disease, Adrenoleukodystrophy, and Addison's Disease.

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What is the outlook (prognosis) for Zellweger Syndrome?
The long-term outlook (prognosis) for infants with Zellweger syndrome is very poor. Most infants do not survive past the first 6 months of life, and usually succumb to respiratory distress, gastrointestinal bleeding, or liver failure. Although no specific treatment for Zellweger syndrome currently exists, significant progress has been made in understanding the molecular and biochemical aspects of the condition, which researchers believe will lead to new research strategies and new therapies in the future.
Is Zellweger Syndrome an inherited disorder?
Zellweger syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the responsible gene in order to have the condition. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers do not have signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
What are the latest Zellweger Syndrome Clinical Trials?
MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG
Who is this study for: Child to adult patients with Mucopolysaccharidosis Disorder, Glycoprotein Metabolic Disorder, Sphingolipidoses and Recessive Leukodystrophy, Peroxisomal Disorder, Osteopetrosis, Hereditary Leukoencephalopathy, or other Inherited Metabolic Disorders
Status: Recruiting
Start Date: July 10, 2014
Intervention Type: Drug, Biological
Study Drugs: Fludarabine, Alemtuzumab, Anti-thymocyte, Celecoxib, Rituximab
Phase: Phase 2
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Summary: This single-institution, phase II study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) using busulfan- and fludarabine-based conditioning regimens with busulfan therapeutic drug monitoring (TDM) for patients with various inherited metabolic disorders (IMD) and severe osteopetrosis (OP).
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Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Status: Recruiting
Start Date: January 2012
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Summary: The Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae. In spite of advancements in peroxisome biology, the pathophysiology remains unknown, the spectrum of phenotypes poorly characterized and the natural history not yet systematically reported. Our aims are to further define this popul...
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What are the Latest Advances for Zellweger Syndrome?
Very long chain acylcarnitines and lysophosphatidylcholines in screening of peroxisomal disease in children by tandem mass spectrometry.
Journal: Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences
Published: October 27, 2021
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Summary: Very long chain acylcarnitines and lysophosphatidylcholines in screening of peroxisomal disease in children by tandem mass spectrometry.
Cholbam® and Zellweger spectrum disorders: treatment implementation and management.
Condition: Zellweger Spectrum Disorders (ZSDs)
Journal: Orphanet journal of rare diseases
Treatment Used: Cholbam®
Number of Patients: 0
Published: September 15, 2021
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Summary: This article discusses the use of Cholbam® in the treatment of patients with Zellweger spectrum disorders (genetic peroxisome disorder; ZSDs).
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Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.
Journal: Advances in experimental medicine and biology
Published: January 08, 2021
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Summary: Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.
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