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Zellweger Syndrome
Zellweger Syndrome Zellweger Syndrome is a rare, autosomal recessive congenital syndrome of multiple abnormalities. Some of the principal characteristics are cerebral dysfunction, defective myelinization, craniofacial abnormalities, renal cysts, hepatomegaly, and biliary dysgenesis. Absence of liver and kidney peroxisomes is the underlying basic defect.
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Syndrome A grouping of signs and symptoms, based on their frequent co-occurrence, that may suggest a common underlying pathogenesis, course, familial pattern, or treatment selection.
Autosomal "Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes. People normally have 22 pairs of autosomes (44 autosomes) in each cell together with two sex chromosomes (X and Y in the male and XX in the female). "
Congenital Present at birth.
Cerebral Referring to the cerebrum.
Dysfunction Difficult function or abnormal function.
Renal Pertains to kidneys.
Cysts Any closed cavity or sac, normal or abnormal, lined by epithelium, and especially one that contains a liquid or semisolid material. (Dorland, 27th ed)
Hepatomegaly Enlargement of the liver.
Biliary Having to do with the gallbladder, bile ducts, or bile. The biliary system itself consists of the gallbladder and bile ducts and, of course, the bile.
Dysgenesis Defective embryonic development.
Liver The largest organ in the body. The liver carries out many important functions, such as making bile, changing food into energy, and cleaning alcohol and poisons from the blood.
Kidney One of the paired organs that excrete urine. The kidneys are bean-shaped organs (about 11 cm long, 5 cm wide, and 3 cm thick) lying on either side of the vertebral column, posterior to the peritoneum, about opposite the twelfth thoracic and first three lumbar vertebrae.
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Zellweger Syndrome
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