Share this entry

Share this page

Hurler's syndrome

Line breaks: Hur¦ler's syn|drome
Pronunciation: /ˈhəːləz
 
/

Definition of Hurler's syndrome in English:

noun

[mass noun] Medicine
A defect in metabolism arising from congenital absence of an enzyme, causing accumulation of lipids and mucopolysaccharides, and resulting in mental retardation, a protruding abdomen, and bone deformities including an abnormally large head. Also called gargoylism.
Example sentences
  • Moreover, cord blood stem cells appear to repair more of the damage caused by Hurler's syndrome than does adult bone marrow.
  • The normal development of myelin sheaths is impaired in children born with certain inherited diseases, such as Tay-Sachs disease, Niemann-Pick disease, Gaucher's disease, and Hurler's syndrome.
  • If the disease is not stopped, children with Hurler's syndrome usually die by 5 to 10 years of age.

Origin

1930s: named after Gertrud Hurler (1889–1965), the Austrian paediatrician who first described it.

Definition of Hurler's syndrome in:

Share this entry

Share this page

 

What do you find interesting about this word or phrase?

Get more from Oxford Dictionaries

Subscribe to remove ads and access premium resources

Word of the day Sprachgefühl
Pronunciation: ˈSHpräkɡəˌf(y)o͞ol
noun
intuitive understanding of a language’s natural idiom…