The ZSDs have long been considered lethal in infancy or early childhood, based on the original description of Zellweger syndrome (Bowen et al 1964). In this retrospective study, we describe a large cohort of patients with a ZSD and show that the natural history is highly variable with a distinct subgroup surviving well into adulthood.. The symptoms of Zellweger syndrome can vary widely and range from mild to severe. Symptoms in infants include: weak muscle tone. difficulty feeding or swallowing. hearing impairment. eye problems.
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Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called Zellweger spectrum disorders which are leukodystrophies.Zellweger syndrome is named after Hans Zellweger (1909-1990), a Swiss-American pediatrician, a professor of pediatrics and genetics at the.. Zellweger syndrome. A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. The birth prevalence of Peroxisome biogenesis disorder (PBD) is.