Zellweger Syndrome

Zellweger syndrome (ZS) is a genetic disorder found in newborn babies. ZS is the most severe of the four disorders in the Zellweger spectrum. It causes serious problems with nerves and metabolism (changing food into energy) soon after birth. ZS affects the brain, liver and kidneys. It also harms important functions throughout the body. Another term for Zellweger syndrome is cerebrohepatorenal syndrome. The condition is usually fatal.

What are Zellweger spectrum disorders (ZSDs)?

Also called peroxisomal biogenesis disorders, these diseases affect peroxisomes. Peroxisomes are parts of cells that are essential for many body functions.

The other Zellweger spectrum disorders include:

• Heimler syndrome, which causes hearing loss and tooth problems in late infancy or early childhood.
• Infantile Refsum disease, which causes muscle movement problems and delays in a baby’s development.
• Neonatal adrenoleukodystrophy, which causes hearing and vision loss, as well as problems with the infant’s brain, spine and muscles.

Who gets Zellweger syndrome?

ZS is the result of mutations (changes) to certain genes. It’s an autosomal recessive disorder. This means a child can only inherit the disorder if both parents pass on a copy of the mutated gene.

If both parents have the mutated gene, their children have a 50% chance of being carriers. A carrier inherits the mutated genes without developing the disease. The children have a 25% chance of developing the disease.

How common is Zellweger syndrome?

ZS is rare. Along with the other diseases in the Zellweger spectrum, they affect about 1 in 50,000 to 1 in 75,000 newborns.