Mucopolysaccharidoses Types I-VII Differential Diagnoses

Updated: May 13, 2022
  • Author: Janette Baloghova, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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Diagnostic Considerations

Other considerations include the following:

  • Hydrocephalus, rachitis, hypothyreosis, chondrodystrophia, and epiphyseal dysplasia (Normal thickening of diaphysis and tubular bones, irregular epiphyses, brachyspondylia, augmentation, and angulation of the spinal vertebrae are present in all these diseases.)

  • Osteogenesis imperfecta

  • Vitamin D–resistant rickets

  • Nephrogenic osteopathy

  • Syphilis connata

  • Spondyloepiphysial dysplasia

  • Metaphysial dysplasia

  • Multiple sulfatase deficiency (MSD)

  • Mucolipidosis I, II, III, and IV

Differential Diagnoses