Zellweger syndrome [zel´weg-er]
an autosomal recessive inborn error of metabolism characterized by a prominent forehead, large anterior fontanelle, poor muscle tone, hepatomegaly, polycystic kidneys, jaundice, and often calcifications in the cartilaginous ends of long bones. Most affected children die in early infancy. Called also cerebrohepatorenal syndrome. See illustration.
A, Facies of an infant with Zellweger syndrome showing a prominent forehead. B, Radiography of the knee of a newborn infant with Zellweger syndrome showing abnormal punctate calcification of the distal femoral epiphyses. From Mueller and Young, 2001.
Zellweger syndrome
Cerebrohepatorenal syndrome An AR disease characterized by defective peroxisomes, due to inability to import matrix proteins Clinical Profound neurologic impairment–seizures, flaccidity, metabolic dysfunction, hyoid
bone and thyroid cartilage calcification, dolichocephaly, persistent wormian bones, hand and foot deformities and bone immaturity, facial dysmorphia, cataracts, contractures, renal cortical cysts, liver fibrosis, death in early infancy
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