Zellwegers syndrom

Engelsk definition

An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Zellweger's Syndrome — Zellweger Disease — Cerebro-Hepato-Renal Syndrome — Cerebro Hepato Renal Syndrome — Cerebrohepatorenal Syndrome — Zellweger-Like Syndrome — Zellweger Like Syndrome — Zellweger Spectrum — Spectrum, Zellweger — Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum — Zellweger Syndrome Spectrum — PBD, ZSS