Conditions / Genetic
mucopolysaccharidosis Ih
info · Genetic · ICD-10: E76.01
A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis
A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3.
Signs and symptoms
- Diminished tissue alpha-L-iduronidase activity
- Coarse facial features
- Thick vermilion border
- Hypertelorism
- Macroglossia
- Bilateral ptosis
- Cranial hyperostosis
- Joint stiffness
- Calvarial hyperostosis
- Umbilical hernia
Medications that may treat it
Also known as: Dysostosis multiplex syndrome; Hurler disease MPS type 1H; Hurler-Pfaundler syndrome; L-iduronidase deficiency, Hurler type; MPS1-H