Morquio Syndrome (Mucopolysaccharidosis Type IV) Differential Diagnoses

Updated: Jul 12, 2017
  • Author: Kazuki Sawamoto, PhD, MS; Chief Editor: Maria Descartes, MD  more...
  • Print

Diagnostic Considerations

Other rare skeletal diseases such as spondyloepiphyseal dysplasias (SED) and spondylometaphyseal dysplasia (SMD) have skeletal manifestations that are similar to those of Morquio A syndrome (mucopolysaccharidosis type IVA [MPS IVA]). Congenital SED can usually be distinguished from Morquio A syndrome because the skeletal deformity in patients with congenital SED is present at birth. However, it is very difficult to differentiate Morquio A syndrome from other types of SED during the neonatal period. Radiographs from patients with two other types of SED, Dyggve-Melchior-Clausen syndrome (DMC) and Smith-McCort syndrome (SMC), show a characteristic lacelike appearance of the iliac crests, [43] which is absent in patients with Morquio A syndrome. DMC can be clinically distinguished from Morquio A syndrome, since DMC causes intellectual disability. Morquio syndrome is also unique from other MPSs because the brain is not affected and it may not result in corneal clouding.

Differential Diagnoses