The Zellweger spectrum is a group of conditions that have overlapping signs and symptoms that affect many parts of the body. These disorders include Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease. Zellweger syndrome (ZS) is the most severe variant among these disease entities. The symptoms typically appear is in the first few hours or days of life. Affected newborns often have hypotonia, seizures, feeding difficulties, liver cysts with liver dysfunction, vision loss, hearing loss, and distinctive facial characteristics including a flattened face, broad nasal bridge, high forehead, upslanting palpebral fissures, epicanthal folds and other features.
Diagnosis could be suspected due to the characteristics of the newborn. In addition, biochemical tests can confirm the diagnosis of Zellweger syndrome. Genetic testing of the PEX6 gene can also be used to confirm the diagnosis. There is no cure for Zellweger syndrome; treatment may be symptomatic and supportive.