OMIM = Online Medalian Inheritance of Men
  • no specific treatment
  • supportive/symptomatic therapy
very rare (1:1500000)
autosomal recessive
2 types: a severe neonatal form may be present in utero and at birth (hydrops fetalis)
coarse facial features
contractures, joints
corneal clouding
corneal deposits
dysostosis multiplex
hearing defect, deafness
hepatomegaly (large liver)
hydrops fetalis
infections (severe or recurrent)
inguinal hernia
macrocephaly (large calvaria, >2 SD for age)
mental retardation
onset, childhood
onset, fetus
prominent abdomen
short stature
splenomegaly (large spleen)
umbilical hernia
valvular heart disease
laboratory finding
Chondroitin 4/6 sulfate0.000.00 increasedurine
beta-Glucuronidase 100.00activityfibroblasts
Mucopolysaccharides0.000.00 increasedurine
Granulocytes, metachromatic
Chondroitin-4-sulfate0.000.00 increasedurine
Dermatan sulfate increasedurine
Heparan sulfate increasedurine
Glycosaminoglycans, total increasedurine
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