Conditions / Genetic
mucopolysaccharidosis Ih/s
info · Genetic · ICD-10: E76.02
A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material
A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3.
Signs and symptoms
- Corneal opacity
- Inguinal hernia
- Camptodactyly of finger
- Thenar muscle atrophy
- Heparan sulfate excretion in urine
- Joint stiffness
- Umbilical hernia
- Dysostosis multiplex
- Dermatan sulfate excretion in urine
- Contracture of the distal interphalangeal joint of the fingers
Medications that may treat it
Also known as: MPS1H/S; MPSIH/S; Mucopolysaccharidosis type 1H/S