Mucopolysaccharidosis Differential Diagnoses

Updated: Feb 18, 2022
  • Author: Tarek Bittar, MD; Chief Editor: Jeffrey D Thomson, MD  more...
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Diagnostic Considerations

Morquio syndrome can be confused with spondyloepiphyseal dysplasia, which is a severe form of skeletal dysplasia. In fact, many skeletal dysplasias were falsely labeled as Morquio syndrome until the discovery in the early 1960s that Morquio syndrome is a lysosomal storage disease.