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Mucopolysaccharidosis type 4

Disease definition

A rare lysosomal storage disease characterized by mild to severe spondylo-epiphyso-metaphyseal dysplasia, manifesting with disproportionate short stature (short neck and trunk), joint laxity, pectus carinatum, genum valgum, abnormal gait, tracheal narrowing, spinal abnormalities (kyphosis and scoliosis), respiratory impairment and valvular heart disease.


Classification level: Disorder
  • Synonym(s):
    • MPS4
    • MPSIV
    • Morquio disease
    • Mucopolysaccharidosis type IV
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: E76.2
  • ICD-11: 5C56.32
  • OMIM: 252300  253000  253010
  • UMLS: C0026707
  • MeSH: D009085
  • GARD: 12562
  • MedDRA: 10028095

Detailed information


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