Zellweger Syndrome, also known as Zellweger Spectrum Disorder (ZSD), is a rare and hereditary genetic disorder that falls under the category of peroxisomal biogenesis disorders. It is named after the Swiss-American pediatrician Hans Zellweger, who first described the condition in the late 1960s. Zellweger Syndrome is characterized by an impaired functioning of peroxisomes, which are vital cell structures responsible for various metabolic processes.
Individuals affected by Zellweger Syndrome typically exhibit a range of physical and developmental abnormalities, including severe hypotonia (muscle weakness), distinctive facial features such as a high forehead, large fontanelles, and hypertelorism (widely spaced eyes), as well as liver and kidney dysfunction. Furthermore, they may experience hearing and vision impairments, seizures, skeletal abnormalities, and delays in motor and intellectual development.
The disorder is inherited in an autosomal recessive manner, meaning that it occurs when an individual inherits two abnormal copies of a gene associated with peroxisomal function from both parents. These genes are responsible for the production of important proteins necessary for peroxisome formation and function.
Due to the severity of the condition and its impact on multiple body systems, Zellweger Syndrome currently has no cure. Treatment primarily focuses on managing the symptoms and providing supportive care, such as physical and occupational therapy, to enhance the quality of life for affected individuals. The prognosis for Zellweger Syndrome is poor, with most individuals not surviving beyond the first year of life.
