| Dictionary, Encyclopedia and Thesaurus - The Free Dictionary 3,902,408,426 visitors served. |
Dictionary/ thesaurus | Medical dictionary | Legal dictionary | Financial dictionary | Acronyms | Idioms | Encyclopedia | Wikipedia encyclopedia | ? |
Scheie syndrome |
Also found in: Dictionary/thesaurus, Encyclopedia, Wikipedia | 0.01 sec. |
|
|
Scheie syndrome
Alpha-l-iduronidase deficiency, mucopolysaccharidosis type IS An AR condition in which a deficit of l-iduronidase results in inefficient degradation and intracellular accumulation of mucopolysaccharides; involvement is less
severe than MPS type IH–Hurler syndrome Clinical SS is manifest in early childhood as short, coarse features, a broad mouth with full lips, inguinal hernias, cataracts, hepatosplenomegaly, aortic incompetence, stiff joints, with development of
claw hands and deformed feet, clouding of cornea, prolonged survival Lab ↑ dermatan sulfate in urine Want to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit the webmaster's page for free fun content. |
|
| Medical Dictionary |
| Free Tools: |
For surfers:
Free toolbar & extensions |
Word of the Day |
Help
For webmasters: Free content | Linking | Lookup box | Double-click lookup |
|---|