Cerebrohepatorenal syndrome

From Health Encyclopedia

Contents 1 Used for 2 Broader Terms 3 Related Terms 4 Scope Note 5 Facts (generated by robot; please edit if you find it inaccurate)

Used for

congenital iron overload, Zellweger syndrome

Broader Terms

congenital brain disorder, congenital kidney disorder, genetic disorder, liver disorder, syndrome

Related Terms

autosomal recessive trait

Scope Note

autosomal recessive peroxisomal disorder, also known as Zellweger syndrome, that typically presents in the neonatal period and is usually fatal; clinical features include hypotonia, dysmorphic skull and facial bones, visual compromise, multifocal seizures, hepatomegaly, biliary dysgenesis, and swallowing difficulties; pathologically, there are migration deficits of the neocortex and degeneration of white matter tracts; Zellweger-like syndrome refers to conditions that phenotypically resemble neonatal Zellweger syndrome, but occur in childhood or adulthood.

Facts (generated by robot; please edit if you find it inaccurate)

• Zellweger Syndrome Zellweger syndrome or cerebrohepatorenal syndrome is characterized by severe hypotonia, brachycephaly, widely open fontanels and sutures, hepatomegaly, hypospadias and cryptorchidism in males (Figure 160.
• Zellweger cerebrohepatorenal syndrome is a peroxisomal disorder characterized by facial dysmorphy, hepatomegaly, renal cysts, mental retardation etc.
• The Zellweger cerebrohepatorenal syndrome is the prototype of the peroxisome biogenesis disorders.
• Synonyms Bowen Syndrome Cerebrohepatorenal Syndrome Disorder Subdivisions None General Discussion Zellweger syndrome is a rare, hereditary disorder characterized by a deficiency or absence of peroxisomes in the cells of the liver, kidneys, and brain.
• Synonym(s): Cerebrohepatorenal Syndrome / Zellweger-Like Syndrome / Cerebro-Hepato-Renal Syndrome / Zellweger Disease / See Related: Liver Seizures Hearing Loss, Sensorineural Kidney Peroxisomes Muscle Hypotonia MeSH 2005 U.
• Synonyms Bowen SyndromeCerebrohepatorenal SyndromeDisorder Subdivisions NoneGeneral Discussion Zellweger syndrome is a rare, hereditary disorder characterized by a deficiency or absence of peroxisomes in the cells of the liver, kidneys, and brain.

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