Zellweger Syndrome - Symptom, Treatment and cause of Zellweger Syndrome

Zellweger Syndrome Description

(Cerebro-Hepato-Renal Syndrome)

Genetic abnormality of brain, liver and kidneys.

Zellweger Syndrome Cause

Familial (runs through families), but both parents must be carriers.

Zellweger Syndrome Symptom

Flat long face, large fontanelle (soft spot) in skull, poor muscle tone, difficulty in breathing from birth, large liver that fails to function, and seizures. The eyes may be affected by glaucoma and cataracts, joints may be contracted, bony abnormalities occur and the testes do not descend in boys.

Investigation

Numerous blood, urine and skeletal X-ray abnormalities detected.

Zellweger Syndrome Treatment

None available.

Prognosis of Zellweger Syndrome

Death within two months of birth.