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Summary
MUCOPOLYSACCHARIDOSIS TYPE IH/S HURLER-SCHEIE SYNDROME
607015
OMIM = Online Medalian Inheritance of Men
93476
4p16.3
rare (1:435000)
autosomal reessive
mutation in the alpha-L-iduronidase gene (IDUA)
symptoms
corneal clouding
dysostosis multiplex
heart involvement
hepatomegaly (large liver)
hirsutism
infections (severe or recurrent)
onset, childhood
onset, infancy
pulmonary hypertension
short stature
skin, thickened
small chin or micrognathia
splenomegaly (large spleen)
umbilical hernia
laboratory finding
Heparan sulfate increasedurine
Dermatan sulfate increasedurine
Literature