Zellweger Syndrome Overview

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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. Zellweger syndrome is caused by genetic changes in any one of at least 12 genes; genetic changes in the PEX1 gene are the most common cause. It is inherited in an autosomal recessive manner.
What are the alternative names for Zellweger Syndrome?
  • Zellweger syndrome
  • CHR
  • Cerebrohepatorenal syndrome
  • ZS
  • ZWS
  • Zellweger leukodystrophy
Who are the top Zellweger Syndrome Local Doctors?
Elite in Zellweger Syndrome
Dr. Nancy E. Braverman
Medical Genetics | Pediatrics
Elite in Zellweger Syndrome
Dr. Nancy E. Braverman
Medical Genetics | Pediatrics
601 N Caroline St, 
Baltimore, MD 
410-955-3071
Languages Spoken:
English

Nancy Braverman is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Dr. Braverman is rated as an Elite provider by MediFind in the treatment of Zellweger Syndrome. Her top areas of expertise are Zellweger Syndrome, Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, and Acromesomelic Dysplasia.

Elite in Zellweger Syndrome
Hans R. Waterham
Elite in Zellweger Syndrome
Hans R. Waterham
Amsterdam, NH, NL 

Hans Waterham practices in Amsterdam, Netherlands. Mr. Waterham is rated as an Elite expert by MediFind in the treatment of Zellweger Syndrome. His top areas of expertise are Zellweger Syndrome, Refsum Disease, Chondrodysplasia Punctata Syndrome, and X-Linked Chondrodysplasia Punctata 2.

 
 
 
 
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Elite in Zellweger Syndrome
Ronald A. Wanders
Elite in Zellweger Syndrome
Ronald A. Wanders
Amsterdam, NH, NL 

Ronald Wanders practices in Amsterdam, Netherlands. Mr. Wanders is rated as an Elite expert by MediFind in the treatment of Zellweger Syndrome. His top areas of expertise are Zellweger Syndrome, Refsum Disease, Barth Syndrome, and Infantile Refsum Disease.

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What are the latest Zellweger Syndrome Clinical Trials?
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Enrollment Status: Recruiting
Publish Date: December 10, 2025

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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The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
Enrollment Status: Recruiting
Publish Date: October 23, 2025

Summary: The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago. Researchers working in the biorepo...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center