Mucopolysaccharidosis type 4

What is Mucopolysaccharidosis type 4?

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.

Other condition names

  • MPS4
  • MPSIV
  • Morquio disease
  • Mucopolysaccharidosis type IV

Inheritance type

Autosomal recessive

Age of Onset

  • Childhood
  • Infancy
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.