Zellweger Syndrome

Also known as

  • Neonatal Adrenoleukodystrophy
  • Infantile Refsum Disease
  • Heimler Syndrome
  • D Bifunctional Protein Deficiency
  • Single Enzyme Defects and Peroxisome Biogenesis Disorder.

Affected children generally show symptoms from birth such as jaundice, hypotonia, deafness, failure to thrive and liver dysfunction. As the disease progresses children deal with global disabilities, vision impairment, adrenal insufficiency and seizures. Children may also suffer renal stones, low bone density and blood clotting issues. It's fatal.

Condition details

Peroxisomal Disorder on the Zellweger Spectrum is categorised by the absence of peroxisomes. Peroxisomes are cell structures that break down toxic substances and synthesize lipids (fatty acids, oils, and waxes) that are necessary for cell function. Peroxisomes are required for normal brain development and function and the formation of myelin, the substance that coats nerve fibres. ZSD affects an estimated 1/50,000. Children usually don’t live long into adulthood, however the spectrum is wide and life expectancy ranges from days old to patients who live into their 30s. Most children have some degree of facial characteristics such as a broad nasal bridge, low set ears, a large fontanel (soft spot) and a high forehead (which in our humble opinion makes for incredibly beautiful children!) they also usually have shortened limbs to some degree small hands and feet.

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Photos of affected individuals

Click images to enlarge.

  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Does not manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Affected genes identified to date

  • PEX 1 through to PEX 13

Inheritance patterns

Is Autosomal recessive

Are carriers affected?

No. Carriers have a 25% chance of having an affected child and 50% chance of having a child who is a carrier. There is a 25% chance of having a child not affected or carrier.

How many are affected?

Support groups and organisations

Zellweger UK
75 Elder Close
Chard
Somerset
TA20 1BQ
England
Tel
Facebook https://www.facebook.com/zellwegeruk/?fref=ts

Known experts

No experts found

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