What is zellweger syndrome?

A leukodystrophy. A genetic condition named after a researcher, zellweger's is a rare leukodystrophy (ld). Lds are a family of congenital disorders with abnormal development and function of the white matter of the brain but they can affect other organs as well. The term syndrome refers to a pattern of physical findings, including unusual craniofacial features, large liver, and eye abnormalities. There is no cure.

Related Questions

On what chromosome is zellweger syndrome found?

Various. Zellweger syndrome is a genetically heterogeneous disorder and can be caused by mutation in any one of several genes involved in peroxisome biogenesis, including peroxin-1 (pex1; 602136) on chromosome 7q21, peroxin-2 (pex2; 170993) on 8q21, peroxin-3 (pex3; 603164) on 6q23-q24, peroxin-5 (pex5; 600414) on 12p13, peroxin-6 (pex6; 601498) on 6p21, peroxin-7 (pex7; 601757) on 6q22-q24, peroxin-10 (pe. Read more...