Zellweger syndrome is a genetic disorder passed from parents to children. It disturbs cellular function and causes serious problems soon after birth. Newborns can have brain, liver and kidney problems, as well as difficulty feeding or moving. There is no cure or treatment. Infants with the disease usually don’t live past their first year of life.
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.
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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:
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.
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.
ZS is the result of a mutation in any of the 12 PEX genes. Most cases of ZS are due to a mutation in the PEX1 gene. These genes control peroxisomes, which are needed for normal cell function. Peroxisomes break down toxins and fats. They play an important role in the development of the:
Symptoms of ZS usually appear soon after birth. Facial abnormalities common in ZS include:
Other symptoms include:
A healthcare provider usually notices the facial features of ZS right after birth. The following tests confirm the diagnosis:
A fetus (unborn baby) is at risk for ZS if both parents are known carriers of mutated PEX genes. In these cases, a healthcare provider may do blood or imaging tests for ZS while the baby is still in the womb.
Infants with Zellweger syndrome may not be able to hear, see or eat. Those with very underdeveloped muscles may not be able to move. Babies often develop breathing problems, liver failure or digestive tract bleeding.
There is no cure for Zellweger syndrome. Some therapies may ease symptoms, but there aren’t any treatments that address the cause of ZS. For example, a baby with difficulty eating may benefit from a feeding tube. But the baby won’t be able to eat normally on his or her own in the future.
There’s no way to prevent ZS. People with a family history of ZS may consider genetic counseling. A genetic counselor can help you evaluate your risk of passing the disease to your children or grandchildren.
Babies with ZS usually don’t live past the first 12 months of life. Other diseases in the Zellweger spectrum tend to have better outlooks. Children with Refsum or Heimler syndromes may live into adulthood.
If you’re a carrier of the genes associated with ZS, genetic counseling can help you weigh the risks of having children.
If you have a child born with ZS, a team of neonatologists (healthcare providers who specialize in newborns) can help you choose the right care plan for your child.
A note from Cleveland Clinic
Zellweger syndrome (ZS) is a rare genetic disorder. It causes serious health problems in babies soon after birth. The disorder can affect kidney, liver and brain function. Children with ZS rarely live past the first year of life. Treatment for ZS can ease symptoms and make the child as comfortable as possible.
Last reviewed by a Cleveland Clinic medical professional on 04/20/2021.
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