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Mucolipidosis type III

Disease definition

A rare lysosomal disease characterized by dysmorphic features and skeletal changes, restricted joint mobility, short stature, and hand deformities (such as claw hands, stiffness of hands, carpal tunnel syndrome, inability to make fists). Most patients have normal intellectual capacity and the clinical progression is less rapid than that of mucolipidosis type II (MLII).

ORPHA:577

Classification level: Disorder
  • Synonym(s):
    • Pseudo-Hurler polydystrophy
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E77.0
  • OMIM: 252600  252605
  • UMLS: C0033788
  • MeSH: -
  • GARD: 3806
  • MedDRA: -

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.