cerebrohepatorenal syndrome

[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. ( CSP )]

UMLS (CSP) C0043459

Congenital Abnormality
Disease or Syndrome

Relation/PAR: Abnormalities, Multiple
Genetic Condition
Kidney Disease
Hepatic Disorder
syndrome
PEROXISOMAL DISORDERS
congenital kidney disorder
congenital brain disorder

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