Human pathology

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Hurler disease

type I mucolipidose, MPS I, alpha-L-iduronidase deficiency, Hurler-Scheie syndrome, Hurler?s disease

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

P.S.


- MIM.252800

Keywords