Hurler disease
Hurler syndrome is caused by mutation in the gene encoding alpha-L-iduronidase (IDUA) (MIM.252800).
Synopsis
subarachnoid cysts
dwarfism
hypertrichosis
scaphocephaly
macrocephaly
coarse facies
corneal opacities
enlarged tongue
short neck
alvular heart disease
coronary artery disease
GI anomalies
liver anomalies
spleen anomalies
inguinal hernia
umbilical hernia
kyphosis
thoracolumbar gibbus
hip flexion contractures
coxa vara
joint stiffness
brachydactyly
claw hand
diaphyseal widening
neurological anomalies
Biology :
Alpha-L-iduronidase deficiency in fibroblasts, amniocytes and white blood cells
Dermatan sulfaturia
Heparan sulfaturia
Metachromasia of white blood cells and fibroblasts
See also
mucopolysaccharidoses