Zellweger

Zellweger is a surname of German origin. It is associated with notable individuals including Renée Zellweger, an American actress known for roles in Jerry Maguire, Bridget Jones's Diary, and Chicago, among others, and Hans Zellweger, a Swiss-born pediatrician who first described Zellweger syndrome in the 1960s.

Zellweger syndrome, also known as Cerebrohepatorenal syndrome, is a rare congenital disorder within the broader group of peroxisomal biogenesis disorders. It results from mutations in genes responsible for peroxisome formation, most commonly in the PEX gene family, leading to impaired metabolism of very long-chain fatty acids and other substrates. The condition presents in infancy with hypotonia, feeding difficulties, distinctive craniofacial features, hepatomegaly, and often seizures and renal or liver dysfunction. It is often lethal within the first year of life, although milder cases within the Zellweger spectrum have been described.

Diagnosis is based on biochemical testing showing elevated very long-chain fatty acids and other peroxisomal biomarkers, followed by genetic testing to identify causative mutations. There is no cure; management is supportive and multidisciplinary, addressing nutritional needs, seizures, liver function, and development. The term Zellweger spectrum disorders now groups several related conditions of varying severity under one umbrella, reflecting advances in understanding the genetic and clinical variability of peroxisome biogenesis disorders.

The name honors Hans Zellweger for describing the syndrome, and Renée Zellweger is the most widely recognized contemporary bearer of the surname.