Zellweger Syndrome

What is Zellweger syndrome?

Zellweger syndrome falls into the Zellweger spectrum, which also contains neonatal adrenoleukodystrophy and Refsum disease. Zellweger is the most severe of these conditions, with the earliest onset and most severe symptoms. 

Babies are typically diagnosed at birth, and unfortunately do not live past their first year. 

What are the symptoms of Zellweger syndrome?

Symptoms are apparent right after birth. They include:

• Poor muscle tone
• Issues feeding
• Liver issues
• Seizures
• Abnormal head size
• Cataracts
• Glaucoma
• Nystagmus
• Skeletal abnormalities
• Malfunctions of the central nervous system

Affected individuals also have distinct facial features, such as a flattened face, broad nasal bridge, extra folds of skin on the neck, a high forehead, and upslanting palpebral fissures. Infants typically have problems with other organs as well, such as the kidneys or heart. 

What causes Zellweger syndrome?

A mutation in one of 13 genes can cause Zellweger syndrome, all of which are inherited in an autosomal recessive pattern. They all have to do with peroxisomes, which are necessary for normal body function. About 70% of people with Zellweger syndrome have a mutation in the PEX1 gene, but the other genes include PEX2, PEX3, PEX5, PEX6, PEX10, PEX11, PEX12, PEX13, PEX14, PEX16, PEX19, and PEX26.

How is Zellweger syndrome diagnosed?

A diagnosis typically comes at birth, as doctors notice the characteristic symptoms. Blood and urine tests will be used, and a genetic test will be used to confirm a diagnosis. 

What are the treatments for Zellweger syndrome?

There is no cure for this condition, and treatment is symptomatic. A team of specialists is often needed. 

Where can I find out more about Zellweger syndrome?

• • • • Cleveland Clinic
      • NIH
      • NORD