cerebrohepatorenal syndrome


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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.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

Zell·we·ger syn·drome

(zel'weg-ĕr),
a metabolic disorder with neonatal onset, characterized by distinctive facies, muscular hypotonia, hepatomegaly with jaundice, renal cysts, epiphyseal stippling of the patellae, cerebral dysmyelination, and neuronal migration defects and psychomotor retardation; there is a perturbation in peroxisomal biogenesis; autosomal recessive inheritance, caused by mutation in any one of several peroxin (PEX) genes on chromosome 6, 7, 8, or 12.

Zell·we·ger syn·drome

(zel'weg-ĕr),
a metabolic disorder with neonatal onset, characterized by distinctive facies, muscular hypotonia, hepatomegaly with jaundice, renal cysts, epiphyseal stippling of the patellae, cerebral dysmyelination, and neuronal migration defects and psychomotor retardation; there is a perturbation in peroxisomal biogenesis; autosomal recessive inheritance, caused by mutation in any one of several peroxin (PEX) genes on chromosome 6, 7, 8, or 12.
Farlex Partner Medical Dictionary © Farlex 2012

Zellweger,

Hans U., U.S. pediatrician, 1909-1990.
Fanconi-Albertini-Zellweger syndrome - see under Fanconi
Zellweger syndrome - Synonym(s): cerebrohepatorenal syndrome
Medical Eponyms © Farlex 2012